Repàs a l'etiologia, la clínica, les exploracions complementàries, el diagnòstic i el tractament de les alteracions testiculars i genitals a l'edat pediàtrica.
Evaluation of the infant with ambiguous genitaliafarzaneh abbasi
The document discusses the evaluation and diagnosis of infants with ambiguous genitalia. Key points include:
- Ambiguous genitalia can be caused by a discrepancy between external genitalia, gonads, and chromosomes, classified as disorders of sex development.
- Initial evaluation includes history, physical exam, karyotype, hormone levels, and imaging to determine internal/external anatomy and diagnose conditions like congenital adrenal hyperplasia.
- Further tests are used to identify genetic causes involving genes important for sexual development and differentiate between XX and XY disorders of sex development.
This document provides an overview of short stature and approaches to evaluating a child presenting with short stature. It defines different types of short stature including familial short stature, constitutional delay of growth and puberty, endocrine causes like growth hormone deficiency and hypothyroidism, disproportionate short stature due to conditions like achondroplasia, chromosomal disorders, emotional deprivation, nutritional causes, and chronic diseases. It also discusses evaluating growth parameters, genetic potential, bone age, causes of short stature, and the role and issues with growth hormone therapy.
El documento define la hipertensión arterial en niños y adolescentes, clasificándola en presión arterial normal, prehipertensión e hipertensión arterial estadio 1 y 2. Explica que la hipertensión puede ser primaria o secundaria a otras causas, y que su tratamiento incluye medidas no farmacológicas como cambios dietéticos y de estilo de vida, así como tratamiento farmacológico cuando sea necesario, considerando factores como la edad y actividad del paciente.
Delayed Puberty Topics in Adolescent Gynecology Delayed Puberty Topics in A...MedicineAndHealth14
This document discusses delayed puberty in adolescent girls. It begins by outlining normal pubertal development and defining delayed puberty. Delayed puberty is then classified into three categories: hypergonadotropic hypogonadism (43%), hypogonadotropic hypogonadism (31%), and eugonadism (26%). For evaluation and management, the document recommends obtaining a history, physical exam, initial labs (TSH, prolactin), and a progestational challenge to determine gonadotropin levels and identify underlying causes. Treatment strategies aim to correct the underlying pathology, prevent disease complications, and provide sex steroids.
This document discusses hypogonadism and testosterone replacement. It provides information on:
- The causes and clinical presentation of primary and secondary hypogonadism.
- Diagnosing hypogonadism through patient history, physical exam, and measuring serum testosterone and other hormone levels.
- Goals of testosterone replacement therapy in treating symptoms and restoring physiological functions.
- Various treatment options for testosterone replacement therapy including oral, buccal, implant, patch, gel, and intramuscular injection formulations. It provides details on the administration and pharmacokinetics of these different options.
GH therapy has been used successfully to treat growth disorders since the 1950s. While early forms of GH carried safety risks, modern recombinant GH is highly purified and safe. GH administration has been shown to significantly increase growth rates in children with deficiencies or disorders like GHD, Turner syndrome, and SGA. Close monitoring is required due to potential side effects involving glucose metabolism, slipped capital femoral epiphysis, and intracranial hypertension in a small percentage of patients.
This document outlines human sex differentiation and approaches to infants born with ambiguous genitalia. It discusses the normal process of sexual development from conception through gestation. Disorders of sexual development are defined as involving differences between chromosomal, gonadal and anatomical sex. The document proposes a revised classification system and reviews the approach to evaluation and management, including gender assignment, reconstructive surgery, hormone therapy and psychosocial support. The goal is a multidisciplinary approach to determine the diagnosis and provide treatment to support normal development and quality of life.
Puberty is the transition period between childhood and adulthood that involves physical and hormonal changes. Precocious puberty refers to the onset of puberty before age 8 in girls and age 9 in boys. It can be classified as central, peripheral, or combined based on whether the cause is in the brain or peripheral organs. Diagnosis involves physical exams, hormone tests, imaging, and puberty staging. Treatment depends on the type but may include medication to delay puberty or surgery to remove tumors.
Evaluation of the infant with ambiguous genitaliafarzaneh abbasi
The document discusses the evaluation and diagnosis of infants with ambiguous genitalia. Key points include:
- Ambiguous genitalia can be caused by a discrepancy between external genitalia, gonads, and chromosomes, classified as disorders of sex development.
- Initial evaluation includes history, physical exam, karyotype, hormone levels, and imaging to determine internal/external anatomy and diagnose conditions like congenital adrenal hyperplasia.
- Further tests are used to identify genetic causes involving genes important for sexual development and differentiate between XX and XY disorders of sex development.
This document provides an overview of short stature and approaches to evaluating a child presenting with short stature. It defines different types of short stature including familial short stature, constitutional delay of growth and puberty, endocrine causes like growth hormone deficiency and hypothyroidism, disproportionate short stature due to conditions like achondroplasia, chromosomal disorders, emotional deprivation, nutritional causes, and chronic diseases. It also discusses evaluating growth parameters, genetic potential, bone age, causes of short stature, and the role and issues with growth hormone therapy.
El documento define la hipertensión arterial en niños y adolescentes, clasificándola en presión arterial normal, prehipertensión e hipertensión arterial estadio 1 y 2. Explica que la hipertensión puede ser primaria o secundaria a otras causas, y que su tratamiento incluye medidas no farmacológicas como cambios dietéticos y de estilo de vida, así como tratamiento farmacológico cuando sea necesario, considerando factores como la edad y actividad del paciente.
Delayed Puberty Topics in Adolescent Gynecology Delayed Puberty Topics in A...MedicineAndHealth14
This document discusses delayed puberty in adolescent girls. It begins by outlining normal pubertal development and defining delayed puberty. Delayed puberty is then classified into three categories: hypergonadotropic hypogonadism (43%), hypogonadotropic hypogonadism (31%), and eugonadism (26%). For evaluation and management, the document recommends obtaining a history, physical exam, initial labs (TSH, prolactin), and a progestational challenge to determine gonadotropin levels and identify underlying causes. Treatment strategies aim to correct the underlying pathology, prevent disease complications, and provide sex steroids.
This document discusses hypogonadism and testosterone replacement. It provides information on:
- The causes and clinical presentation of primary and secondary hypogonadism.
- Diagnosing hypogonadism through patient history, physical exam, and measuring serum testosterone and other hormone levels.
- Goals of testosterone replacement therapy in treating symptoms and restoring physiological functions.
- Various treatment options for testosterone replacement therapy including oral, buccal, implant, patch, gel, and intramuscular injection formulations. It provides details on the administration and pharmacokinetics of these different options.
GH therapy has been used successfully to treat growth disorders since the 1950s. While early forms of GH carried safety risks, modern recombinant GH is highly purified and safe. GH administration has been shown to significantly increase growth rates in children with deficiencies or disorders like GHD, Turner syndrome, and SGA. Close monitoring is required due to potential side effects involving glucose metabolism, slipped capital femoral epiphysis, and intracranial hypertension in a small percentage of patients.
This document outlines human sex differentiation and approaches to infants born with ambiguous genitalia. It discusses the normal process of sexual development from conception through gestation. Disorders of sexual development are defined as involving differences between chromosomal, gonadal and anatomical sex. The document proposes a revised classification system and reviews the approach to evaluation and management, including gender assignment, reconstructive surgery, hormone therapy and psychosocial support. The goal is a multidisciplinary approach to determine the diagnosis and provide treatment to support normal development and quality of life.
Puberty is the transition period between childhood and adulthood that involves physical and hormonal changes. Precocious puberty refers to the onset of puberty before age 8 in girls and age 9 in boys. It can be classified as central, peripheral, or combined based on whether the cause is in the brain or peripheral organs. Diagnosis involves physical exams, hormone tests, imaging, and puberty staging. Treatment depends on the type but may include medication to delay puberty or surgery to remove tumors.
Este documento describe la hipertensión arterial en niños y adolescentes. Resalta la importancia de detectarla tempranamente debido a que puede influir en riesgos cardiovasculares futuros y causar daños como accidentes cerebrovasculares. Explica factores de riesgo como antecedentes familiares e identifica etiologías como enfermedades renales, endocrinas o cardiológicas. Finalmente, ofrece pautas para medir la presión arterial correctamente y derivar a especialistas según la edad y posibles causas de la hipertensión.
La revisión clínica y académica trata sobre la diabetes insípida. En primer lugar, explica la fisiopatología de la diabetes insípida central y nefrogénica. Luego, describe la presentación clínica, que incluye poliuria y, potencialmente, deshidratación. Finalmente, detalla la guía diagnóstica, que implica probar la concentración de orina con y sin desmopresina.
1) IUGR is caused by genetic or environmental factors that inhibit a fetus from reaching its growth potential, resulting in birth weight below the 10th percentile.
2) The leading causes of IUGR are placental insufficiency due to conditions like preeclampsia, diabetes, and chronic hypertension.
3) Diagnosis of IUGR involves assessing risk factors, ultrasound to evaluate fetal growth and dating, and Doppler ultrasound of the umbilical artery, uterine artery, middle cerebral artery, and ductus venosus to detect signs of placental insufficiency or fetal stress.
Este documento trata sobre la hipertensión arterial en pediatría. Define la hipertensión arterial como una presión arterial sistólica y/o diastólica por encima del percentil 95 para la edad, sexo y talla en 3 mediciones. Explica que la hipertensión esencial representa el 5% de los casos y la hipertensión secundaria el 90-95%, siendo las causas más comunes la enfermedad renal y renovascular. Finalmente, detalla los diferentes tratamientos farmacológicos para la hipertensión arterial en niños,
Disorders of pubertal development can involve delayed, premature, or arrested puberty. The document discusses the normal physiology of puberty and various conditions that cause abnormalities in pubertal development, including central precocious puberty, peripheral precocious puberty, premature adrenarche, constitutional delay of growth and puberty, and pubertal arrest. Evaluation and management of disorders of pubertal development involves assessment of signs of puberty, auxiliary investigations, and potential treatments depending on the underlying cause.
Precocious puberty can be caused by central or peripheral conditions. Central precocious puberty is gonadotropin dependent and caused by organic brain lesions or idiopathically. Peripheral precocious puberty is gonadotropin independent and caused by conditions like McCune-Albright syndrome or adrenal tumors. Hypothyroidism can also cause precocious puberty by elevating TSH levels and interacting with FSH receptors. Evaluation involves assessing pubertal progression, growth, hormonal levels, and imaging. Treatment depends on the underlying cause, and may involve surgery, medication like GnRH agonists, or treating the primary condition in cases of hypothyroidism.
This document discusses delayed puberty in children. It begins by defining normal puberty and factors that can affect the timing of puberty. It then defines delayed puberty and describes the main types as hypogonadotropic hypogonadism, characterized by low gonadotropins, and hypergonadotropic hypogonadism, characterized by high gonadotropins. The document outlines the evaluation and management of delayed puberty, including history, physical exam, laboratory tests, and treatment approaches depending on the underlying cause. Treatment may involve hormone replacement therapy, addressing underlying medical conditions, or observation in cases of constitutional delay.
This case discusses a 7-year-old boy presenting with early signs of puberty over the past 5-6 months. Laboratory tests showed elevated levels of testosterone, LH, and FSH, confirming precocious puberty. A GnRH stimulation test showed an LH spike, indicating central precocious puberty. The patient was diagnosed with idiopathic central precocious puberty and prescribed injections of Decapeptyl to delay further pubertal progression until age 11 in order to avoid short adult stature. The document discusses evaluation and management of precocious puberty.
Precocious puberty refers to the onset of sexual maturation before age 8 in girls and age 9 in boys. Common signs in girls include breast development, pubic hair growth, growth spurts, and menstruation. In boys, signs are enlargement of the testes or penis, pubic hair growth, growth spurts, and voice deepening. The causes can include brain injuries, infections, thyroid issues, or primary sex organ abnormalities. Treatment involves lowering sex hormone levels with medications like LHRH to stop further sexual development. Supporting the child emotionally is also important.
This document discusses disorders of sex development (DSD), formerly known as intersex conditions. It defines DSD and outlines its various types including 46,XX virilized female, 46,XY undervirilized male, gonadal differentiation disorders, and sex chromosome DSD. It discusses the embryology, incidence, evaluation, and management of DSD. Evaluation involves history, examination, imaging, genetics, endocrinology, and counseling. Treatment options include reconstructive surgery and hormone therapy, with the goal of matching sex assignment to chromosomal and gonadal sex when possible.
This document provides an overview of short stature, including definitions, causes, diagnostic evaluation, and treatment. Short stature is defined as a height more than 2 standard deviations below average and can be caused by genetic, nutritional, or endocrine factors. Evaluation involves thorough history, physical exam, growth measurements, bone age assessment, and lab tests to identify the underlying cause. Management depends on the cause, but may include treating any identified medical conditions, nutritional supplementation, growth hormone therapy, or psychological support.
Precocious puberty refers to the onset of puberty before age 8 in girls and age 9 in boys. It can be caused by central activation of the hypothalamic-pituitary-gonadal axis or peripheral problems affecting the ovaries, testes or adrenal glands. Treatment typically involves suppressing early hormone production through GnRH analogues to delay puberty and allow for normal adult height. Parents can help children cope by educating them about the changes, monitoring for emotional impacts, and offering praise and support through participation in other activities rather than focusing on appearance.
This case document summarizes the history, examination findings, investigations and diagnosis of an 18-month-old child presenting with persistent vomiting, failure to thrive, and developmental delay. Key test results revealed elevated tyrosine levels, abnormal urine organic acids, and elevated alpha-fetoprotein consistent with a diagnosis of Tyrosinemia Type 1. The child was placed on a low-protein diet avoiding tyrosine and phenylalanine to manage this inherited metabolic disorder.
Precocious puberty is when sexual and physical maturation occurs earlier than normal. It can begin as early as age 6-7 in girls and before age 9 in boys. This is caused by the early release of hormones from the hypothalamus and pituitary gland. Treatment aims to stop further sexual development and rapid growth to allow children to reach their full adult height. Medications that block sex hormones are commonly used, and can help reverse physical changes and return behavior to age-appropriate levels. Precocious puberty affects girls more often than boys and carries health risks if not properly treated.
Developmental assessment for medical students, GP, residents and MRCPCH examsVarsha Shah
The document provides guidance for assessing the development of children aged 6 months to 5 years during a 9 minute station. It outlines the key areas to assess including motor, language, social, and behavioral development. Sample milestones are provided for different ages. The approach involves introducing yourself, observing the child, then focusing the assessment on one area such as fine motor or language skills. The goal is to demonstrate understanding of developmental milestones and how to summarize findings and management plans for children with delays.
1. Disorders of sex development (DSD), previously known as intersex conditions, involve atypical development of chromosomal, gonadal, or anatomical sex.
2. DSDs are classified into 46,XX virilized females, 46,XY undervirilized males, gonadal differentiation disorders, and syndromes associated with ambiguous genitalia.
3. Treatment involves a multidisciplinary team approach considering medical, surgical, and psychosocial factors to assign sex, perform reconstructive surgery, and provide hormone therapy aiming to optimize function and quality of life.
This document discusses two case scenarios involving pediatric cardiology patients. The first scenario is about a 12-year-old boy who is overweight due to a sedentary lifestyle involving online schooling, TV watching, and eating fast and junk food. The second scenario describes a 14-year-old active boy whose grandfather died at age 49 and who has elevated cholesterol and LDL levels. The document discusses the long-term cardiovascular risks of obesity and high cholesterol in childhood, including increased blood pressure, lipids, and future risk of atherosclerosis. It recommends addressing these risks through lifestyle changes, physical activity, healthy eating, and early screening and treatment when needed, including behavioral interventions and statin prescriptions in rare cases of familial hyper
The document discusses disorders of sex development (DSD) including:
1. There is a community in the Dominican Republic where some males are born looking like girls but grow a penis at puberty, known as "Guevedoces", meaning "penis at twelve". This is likely due to 5α-reductase deficiency.
2. The presentation, etiology, pathogenesis, and management of various DSD conditions are reviewed including congenital adrenal hyperplasia, androgen insensitivity syndrome, and defects in testicular development.
3. Evaluation of a child with ambiguous genitalia involves a thorough history, examination, and targeted investigations to determine the diagnosis and guide management.
This document discusses shock in neonates and neonatal vasoregulation. It begins by defining blood pressure and its components. It then discusses factors that affect blood pressure and the unique features of the neonatal myocardium. It describes the roles of catecholamines and their receptors in relation to blood pressure. The document clarifies terminology around hypotension and shock. It concludes by discussing clinical methods for monitoring systemic hemodynamics in critically ill newborns such as capillary refill time, central-peripheral temperature difference, and blood pressure measurements.
Este documento describe la hipertensión arterial en niños y adolescentes. Resalta la importancia de detectarla tempranamente debido a que puede influir en riesgos cardiovasculares futuros y causar daños como accidentes cerebrovasculares. Explica factores de riesgo como antecedentes familiares e identifica etiologías como enfermedades renales, endocrinas o cardiológicas. Finalmente, ofrece pautas para medir la presión arterial correctamente y derivar a especialistas según la edad y posibles causas de la hipertensión.
La revisión clínica y académica trata sobre la diabetes insípida. En primer lugar, explica la fisiopatología de la diabetes insípida central y nefrogénica. Luego, describe la presentación clínica, que incluye poliuria y, potencialmente, deshidratación. Finalmente, detalla la guía diagnóstica, que implica probar la concentración de orina con y sin desmopresina.
1) IUGR is caused by genetic or environmental factors that inhibit a fetus from reaching its growth potential, resulting in birth weight below the 10th percentile.
2) The leading causes of IUGR are placental insufficiency due to conditions like preeclampsia, diabetes, and chronic hypertension.
3) Diagnosis of IUGR involves assessing risk factors, ultrasound to evaluate fetal growth and dating, and Doppler ultrasound of the umbilical artery, uterine artery, middle cerebral artery, and ductus venosus to detect signs of placental insufficiency or fetal stress.
Este documento trata sobre la hipertensión arterial en pediatría. Define la hipertensión arterial como una presión arterial sistólica y/o diastólica por encima del percentil 95 para la edad, sexo y talla en 3 mediciones. Explica que la hipertensión esencial representa el 5% de los casos y la hipertensión secundaria el 90-95%, siendo las causas más comunes la enfermedad renal y renovascular. Finalmente, detalla los diferentes tratamientos farmacológicos para la hipertensión arterial en niños,
Disorders of pubertal development can involve delayed, premature, or arrested puberty. The document discusses the normal physiology of puberty and various conditions that cause abnormalities in pubertal development, including central precocious puberty, peripheral precocious puberty, premature adrenarche, constitutional delay of growth and puberty, and pubertal arrest. Evaluation and management of disorders of pubertal development involves assessment of signs of puberty, auxiliary investigations, and potential treatments depending on the underlying cause.
Precocious puberty can be caused by central or peripheral conditions. Central precocious puberty is gonadotropin dependent and caused by organic brain lesions or idiopathically. Peripheral precocious puberty is gonadotropin independent and caused by conditions like McCune-Albright syndrome or adrenal tumors. Hypothyroidism can also cause precocious puberty by elevating TSH levels and interacting with FSH receptors. Evaluation involves assessing pubertal progression, growth, hormonal levels, and imaging. Treatment depends on the underlying cause, and may involve surgery, medication like GnRH agonists, or treating the primary condition in cases of hypothyroidism.
This document discusses delayed puberty in children. It begins by defining normal puberty and factors that can affect the timing of puberty. It then defines delayed puberty and describes the main types as hypogonadotropic hypogonadism, characterized by low gonadotropins, and hypergonadotropic hypogonadism, characterized by high gonadotropins. The document outlines the evaluation and management of delayed puberty, including history, physical exam, laboratory tests, and treatment approaches depending on the underlying cause. Treatment may involve hormone replacement therapy, addressing underlying medical conditions, or observation in cases of constitutional delay.
This case discusses a 7-year-old boy presenting with early signs of puberty over the past 5-6 months. Laboratory tests showed elevated levels of testosterone, LH, and FSH, confirming precocious puberty. A GnRH stimulation test showed an LH spike, indicating central precocious puberty. The patient was diagnosed with idiopathic central precocious puberty and prescribed injections of Decapeptyl to delay further pubertal progression until age 11 in order to avoid short adult stature. The document discusses evaluation and management of precocious puberty.
Precocious puberty refers to the onset of sexual maturation before age 8 in girls and age 9 in boys. Common signs in girls include breast development, pubic hair growth, growth spurts, and menstruation. In boys, signs are enlargement of the testes or penis, pubic hair growth, growth spurts, and voice deepening. The causes can include brain injuries, infections, thyroid issues, or primary sex organ abnormalities. Treatment involves lowering sex hormone levels with medications like LHRH to stop further sexual development. Supporting the child emotionally is also important.
This document discusses disorders of sex development (DSD), formerly known as intersex conditions. It defines DSD and outlines its various types including 46,XX virilized female, 46,XY undervirilized male, gonadal differentiation disorders, and sex chromosome DSD. It discusses the embryology, incidence, evaluation, and management of DSD. Evaluation involves history, examination, imaging, genetics, endocrinology, and counseling. Treatment options include reconstructive surgery and hormone therapy, with the goal of matching sex assignment to chromosomal and gonadal sex when possible.
This document provides an overview of short stature, including definitions, causes, diagnostic evaluation, and treatment. Short stature is defined as a height more than 2 standard deviations below average and can be caused by genetic, nutritional, or endocrine factors. Evaluation involves thorough history, physical exam, growth measurements, bone age assessment, and lab tests to identify the underlying cause. Management depends on the cause, but may include treating any identified medical conditions, nutritional supplementation, growth hormone therapy, or psychological support.
Precocious puberty refers to the onset of puberty before age 8 in girls and age 9 in boys. It can be caused by central activation of the hypothalamic-pituitary-gonadal axis or peripheral problems affecting the ovaries, testes or adrenal glands. Treatment typically involves suppressing early hormone production through GnRH analogues to delay puberty and allow for normal adult height. Parents can help children cope by educating them about the changes, monitoring for emotional impacts, and offering praise and support through participation in other activities rather than focusing on appearance.
This case document summarizes the history, examination findings, investigations and diagnosis of an 18-month-old child presenting with persistent vomiting, failure to thrive, and developmental delay. Key test results revealed elevated tyrosine levels, abnormal urine organic acids, and elevated alpha-fetoprotein consistent with a diagnosis of Tyrosinemia Type 1. The child was placed on a low-protein diet avoiding tyrosine and phenylalanine to manage this inherited metabolic disorder.
Precocious puberty is when sexual and physical maturation occurs earlier than normal. It can begin as early as age 6-7 in girls and before age 9 in boys. This is caused by the early release of hormones from the hypothalamus and pituitary gland. Treatment aims to stop further sexual development and rapid growth to allow children to reach their full adult height. Medications that block sex hormones are commonly used, and can help reverse physical changes and return behavior to age-appropriate levels. Precocious puberty affects girls more often than boys and carries health risks if not properly treated.
Developmental assessment for medical students, GP, residents and MRCPCH examsVarsha Shah
The document provides guidance for assessing the development of children aged 6 months to 5 years during a 9 minute station. It outlines the key areas to assess including motor, language, social, and behavioral development. Sample milestones are provided for different ages. The approach involves introducing yourself, observing the child, then focusing the assessment on one area such as fine motor or language skills. The goal is to demonstrate understanding of developmental milestones and how to summarize findings and management plans for children with delays.
1. Disorders of sex development (DSD), previously known as intersex conditions, involve atypical development of chromosomal, gonadal, or anatomical sex.
2. DSDs are classified into 46,XX virilized females, 46,XY undervirilized males, gonadal differentiation disorders, and syndromes associated with ambiguous genitalia.
3. Treatment involves a multidisciplinary team approach considering medical, surgical, and psychosocial factors to assign sex, perform reconstructive surgery, and provide hormone therapy aiming to optimize function and quality of life.
This document discusses two case scenarios involving pediatric cardiology patients. The first scenario is about a 12-year-old boy who is overweight due to a sedentary lifestyle involving online schooling, TV watching, and eating fast and junk food. The second scenario describes a 14-year-old active boy whose grandfather died at age 49 and who has elevated cholesterol and LDL levels. The document discusses the long-term cardiovascular risks of obesity and high cholesterol in childhood, including increased blood pressure, lipids, and future risk of atherosclerosis. It recommends addressing these risks through lifestyle changes, physical activity, healthy eating, and early screening and treatment when needed, including behavioral interventions and statin prescriptions in rare cases of familial hyper
The document discusses disorders of sex development (DSD) including:
1. There is a community in the Dominican Republic where some males are born looking like girls but grow a penis at puberty, known as "Guevedoces", meaning "penis at twelve". This is likely due to 5α-reductase deficiency.
2. The presentation, etiology, pathogenesis, and management of various DSD conditions are reviewed including congenital adrenal hyperplasia, androgen insensitivity syndrome, and defects in testicular development.
3. Evaluation of a child with ambiguous genitalia involves a thorough history, examination, and targeted investigations to determine the diagnosis and guide management.
This document discusses shock in neonates and neonatal vasoregulation. It begins by defining blood pressure and its components. It then discusses factors that affect blood pressure and the unique features of the neonatal myocardium. It describes the roles of catecholamines and their receptors in relation to blood pressure. The document clarifies terminology around hypotension and shock. It concludes by discussing clinical methods for monitoring systemic hemodynamics in critically ill newborns such as capillary refill time, central-peripheral temperature difference, and blood pressure measurements.
Cel·lularitat sanguínia a l'edat pediàtrica. Aproximació a les noves eines per a millorar la interpretació de l'hemograma bàsic. Aplicació a la pràctica clínica en situacions de patologia aguda.
1) La autoinflamación es un mecanismo de enfermedad que causa inflamación sin una causa infecciosa identificada. 2) Existen diferentes patrones clínicos de enfermedades autoinflamatorias como episodios recurrentes o inflamación persistente. 3) El hemograma juega un papel importante en el diagnóstico al mostrar anormalidades como trombopenia.
Rinitis al·lèrgica a l'edat pediàtrica. És la malaltia crònica més freqüent a l'edat pediàtrica. Prevalença, factors de risc, etiologia, diagnòstic i tractament.
Anquiloglòssia: diagnòstic, tractament i implicacions. 2024Pediatriadeponent
Repàs a les diverses eines per a valorar l'anquiloglòssia en el context de la dificultat per l'alletament matern. Tractament quirúrgic. Anquiloglòssia, parla i malposició dental.
Malalties minoritàries. Què n'ha de saber el pediatre/a?Pediatriadeponent
Definició de malaltia rara/minoritària. Recursos per a professionals, famílies. Centres de recerca.
https://pedretina.org/ i https://stargardtgo.blogspot.com/
La alimentación y sus trastornos. Detección y abordajes iniciales en TCAPediatriadeponent
El documento presenta información sobre la detección y abordaje inicial de los trastornos de la conducta alimentaria (TCA) en la consulta de atención primaria. La presentación discute la diferencia entre los trastornos de la ingesta alimentaria y los TCA, describe los principales TCA (anorexia nerviosa, bulimia nerviosa y trastorno por atracón), e indica cómo detectar posibles casos de TCA en la consulta primaria y los primeros pasos para abordarlos.
Hiperbilirubinèmia neonatal: novetats en l'abordatge. 2023Pediatriadeponent
Fisiopatologia de la hiperbilirubinèmia en el període neonatal. Icterícia. Risc d'encefalopatia bilirubínica i kernicterus. Mesura de la bilirubina. Noves indicacions de tractament segons edat gestacional i dies de vida.
Introducció al concepte de Cures Centrades en el Desenvolupament i la Família (CCDF) en l'atenció al nadó prematur. Estrés i desenvolupament neurosensorial, el paper de la família com a cuidadora del nadó.
NIDCAP: cura del nadó d'una manera més individualitzada i a través de l'observació. Teoria Sinactiva.
Alimentació saludable. Estil de vida saludable vs dieta.
Canvi d'hàbits. Model mare/pare. Establiment de límits. Reforçaments. Gestió de conflictes. Alternatives als càstigs. El perill psicològic de les dietes.
2. Index
2
GINECOMÀSTIA
MICROPENIS
MACROORQUIDISME
CRIPTORQUÍDIA
- Generalitats
- Diferents entitats...són el
mateix?
- Mecanisme etiopatogènic del
descens testicular
- F. etiopatogènics
- Algoritme de maneig
- EF i proves complementàries
- Tractament
- Pronòstic
- Concepte
- Embriologia
- Etiologia
- Diagnòstic per EF
- Proves
complementàries
- Tractament
- Generalitats
- Embriologia i
histologia
- Etiopatogènia
- Ginecomàstia
neonatal i puberal
- Anamnesi i EF
- Tractament
- Maneig
-Generalitats,
anamnesi i EF.
- Proves
complementàries
- Tractament
3. Index
2
GINECOMÀSTIA
MICROPENIS
MACROORQUIDISME
CRIPTORQUÍDIA
- Generalitats
- Diferents entitats...són el
mateix?
- Mecanisme etiopatogènic del
descens testicular
- F. etiopatogènics
- Algoritme de maneig
- EF i proves complementàries
- Tractament
- Pronòstic
- Concepte
- Embriologia
- Etiologia
- Diagnòstic per EF
- Proves
complementàries
- Tractament
- Generalitats
- Embriologia i
histologia
- Etiopatogènia
- Ginecomàstia
neonatal i puberal
- Anamnesi i EF
- Tractament
- Maneig
-Generalitats,
anamnesi i EF.
- Proves
complementàries
- Tractament
4. Index
2
GINECOMÀSTIA
MICROPENIS
MACROORQUIDISME
CRIPTORQUÍDIA
- Generalitats
- Diferents entitats...són el
mateix?
- Mecanisme etiopatogènic del
descens testicular
- F. etiopatogènics
- Algoritme de maneig
- EF i proves complementàries
- Tractament
- Pronòstic
- Concepte
- Embriologia
- Etiologia
- Diagnòstic per EF
- Proves
complementàries
- Tractament
- Generalitats
- Embriologia i
histologia
- Etiopatogènia
- Ginecomàstia
neonatal i puberal
- Anamnesi i EF
- Tractament
- Maneig
-Generalitats,
anamnesi i EF.
- Proves
complementàries
- Tractament
5. Criptorquídia: diferents entitats...són el mateix?
Testicles no descendits:
● Congènits: fora de la bossa escrotal des del naixement, poden ser palpables al
llarg del trajecte del descens però no podem desplaçar-lo fins a l’escrot o si ho
fem ascendeix novament.
● Adquirit: descendeix el primer any de vida i posteriorment reascendeix. Es deu a
una manca de creixement del cordó espermàtic.
Testicle retràctil o en ascensor: es troba en el conducte engonal i
espontàniament o amb maniobres manuals descendeix amb facilitat a l’escrot. Es deu
a un reflex cremastèric exagerat. 1/3 presenten ascens tardà.
5
Testicle ectòpic: es troba fora del trajecte
normal de descens.
Anòrquia: no es troba la gònada ni per
proves d’imatge ni amb cirurgia.
6. Mecanisme etiopatogènic del descens testicular
Fases del descens testicular:
Embrionàries:
● Abdominal (15ª SG): els testes llisquen a través de
la cavitat abdominal fins a l’orifici engonal intern.
Regulada per INSL3 (insulin-like 3) i el seu
receptor RXFP2 que masculinitzarà el gubernaculum
testis.
● Inguinoescrotal (28ªSG): el testicle es guiat pel
gubernaculum testis fins a l’escrot (35ª SG). És
andrògen depenent. LH actua en les cèl·lules de
Leydig afavorint la síntesis de testosterona i INSL-3.
Postnatal: elevació transitòria de les gonadotropines
durant els primers 6 mesos:
● Cèl·lules de Leydig Testosterona.
● Cèl·lules de Sertoli Inhibina B i hormona
Antimülleriana (AMH)
6
7. Criptorquídia: factors etiopatogènics
7
Intervenen mecanismes genètics, ambientals...
● Genètics: síndrome Klinefelter, alteracions estructurals del cr. Y, síndrome
Noonan, sd. Prader-Willi, Beckwith-Wiederman...
● Ambientals: disruptors endocrins, prematuritat, baix pes al néixer, PEG.
● Materns: el consum d’analgèsics de forma perllongada durant el 1-2º T de
la gestació augmenta el risc (Kristensen et al 2010)…
An Pediatr Contin. 2009; 7 (6): 333-8
8. Criptorquídia: exploració física i proves
EXPLORACIÓ FÍSICA:
Posicions: decúbit supí amb cames flexionades i en abducció complerta. Si
dubte: a la gatzoneta.
Cal valorar: bossa escrotal, canal engonal, asimetries de tamany,
consistència i movilitat del testicle.
PROVES COMPLEMENTÀRIES:
Analítica:
● Cariotip
● Gonadotrofines i Testosterona basal
● Inhibina B i AMH
Test funcional HCG (VPP 89%;VPN 100%).
Proves d’imatge:
● Ecografia: visualitza teste en zona inguino-escrotal.
● RMN: útil en testicles intraabdominals.
● Angioressonància
• D’elecció si ecografía no ha localitzat el testicle.
8
9. Criptorquídia: algoritme maneig
9
Nen amb criptorquídia
Palpable/s
Teste en ascensor
Seguiment anual des de
ABS
Si reascens i no descendible 6-12
mesos: derivació cirurgia.
Teste ectòpic
Cirurgia
pediàtrica
No palpable/s
Ecografia abdomino-engonal
Bilateral
Analítica en
consulta externa
Derivació a endocrinologia
pediàtrica
Unilateral
Cirurgia pediàtrica
6-12 mesos edat
10. Criptorquídia: tractament
Sempre quirúrgic (funiculolisis i orquidopèxia, laparoscòpia).
● Edat: abans dels 2 anys (mai abans dels 6 mesos).
Hormonal (millorar fertilitat): criptorquídia bilateral, > 1 any amb
testes molt petits en ecografia, testes abdominals, testicles únics o
contralateral lesionat prèviament.
10
Kollin C, Granholm T, Nordenskjold A, Ritzén EM Growth of spontaneously
descended and surgically treated testes during early childhood. Pediatrics. 131:
e1174-1180, 2013
11. Criptorquídia: pronòstic
Infertilitat/subfertilitat: 33% dels casos unilaterals, 66% dels bilaterals.
● No recomanació de biòpsies testiculars per predir la fertilitat
futura.
● Moments clau: als 3 mesos de edat la cèl·lula germinal passa a
espermatogònia i als 4 anys es dona la meiosi (espermatòcits
quiescents fins pubertat).
Càncer testicular (20-40 anys):
● 5-10% dels tumors testiculars tenen antecedents de criptorquídia.
● Risc x 3 (a més temps de IQ més risc).
11
13. Micropenis: concepte
Penis normofuncionant i d’estructura normal però amb longitud
≤ 2,5 DE per a la seva edat i desenvolupament puberal.
13
Priego Ruíz M.P. Revisión micropene. Vox Paediatrica 2013; XX(2): 31-37
14. 14
Micropenis: embriologia
Fins 7-8ª SG: genitals externs indiferents.
9-10ª SG: formació penis (Testosterona DHT, a través de HCG
materna)
16-38SG: creixement penià (andrògens fetals estimulats per
gonadotrofines fetals).
Regulació molecular:
Gen SRY + gen SOX9
• Estimulen el gen FIM i augmenta
AMH: inhibició dels conductes de
Müller.
• Inhibeixen gen WNT4 (gen
determinant de l’ovari).
SF1:
• Estimula síntesi Testosterona
• T DHT
15. Micropenis: etiología
15
50% dels casos50% dels casos
El 30% dels casos de micropenis en
període neonatal corresponen a
hipogonadismes hipogonadotrops.
16. Micropenis: diagnòstic per exploració física
Exploració física:
1. Mesurar el penis per la cara dorsal, mesurant desde la sínfisis
púbica/base peniana, cal deprimir el greix pubià, fins la punta del
gland.
2. Comprovar testes en bossa íntegres.
3. Sempre cal descartar un fals micropene:
• Penis soterrat en greix pubià (obesitat o secundari a fimosis)
• Penis palmejat
• Penis caigut (per alteració del lligament suspensori).
16
17. Micropene: sempre proves complementàries
Analítica:
LH, FSH i Testosterona basal
Descartar panhipopituitarisme: glucèmia, ACTH, Cortisol, IGF-
1, TSH, T4L i PRL.
Si micropenis aïllat: AMH i Inhibina B (senyal de teixit testicular
funcionant).
Cariotipsi hipogonadisme primari o aspecte sindròmic.
Tests funcionals:
Test LHRH: diferenciem hipogonadisme hipogonadotrop de
hipergonadotrop.
Test curt de β-HCG.
Testosterona pre i post (72h): si > 5-10 cops en nens o 2-3 cops en
adolescents és positiu. També es pot descartar déficit de 5-α reductasa
determinant DHT.
17
18. Micropene: tractament segons la causa
Primera elecció testosterona exógena: enantato de testosterona im 25
mg-50mgr segons edat cada 3 setmanes durant 4-6 mesos.
● Inici primers mesos de vida: major R androgènics
● Pubertat.
Alternativa: β-HCG 3000 Ui/m2 im dos cops a la setmana durant 5
setmanes si testes fucionants.
Tractament tòpic amb eficacia variable i experiència limitada en infancia:
testosterona al 5% diaria.
Cirugia reconstructiva en edat adulta.
Si dèficit congènit GH: GH i si no resposta afegir testosterona.
En cas de no resposta valorar dèficit de 5- α reductasa: gel de
dehidrostestosterona de 2,5% 3 cops al dia durant 5 setmanes en regió
periescrotal.
18
20. Ginecomàstia: generalitats
Proliferació del teixit glandular mamari en l’home, uni/bilateral, i
associat o no a símptomes locals.
Prevalença variable (4-69% en adolescents)
● Probable infradiagnòstic per factors psicològics i pel bon pronòstic de la
entitat.
Presentació en 3 pics de la vida: 95% en període puberal vs 5% en
altres etapes (neonat i edat avançada).
20
21. Ginecomàstia: embriologia i histologia.
Embriologia:
● Desenvolupament a partir de la 6º SG.
● Compost de l’epiteli glandular ductal i del teixit connectiu
periductal.
21
Histologia, 2 fases independentment de l’etiologia
● Fase proliferativa: hiperplàsia del teixit epitelial
ductal i connectiu amb edema del estroma periductal
i augment de la vascularització. Reversible.
● Fase fibròtica: invasió del teixit intersticial amb
hialinització i fibrosis i dilatació ductal. Irreversible.
22. Ginecomàstia: etiopatogènia
Desequilibri entre estrògens/andrògens, amb predomini
dels estrògens.
22
Causes de ginecomàstia en població
general
25% Idiopàtica
25% Persistència puberal
10-20% Fàrmacs
8% Cirrosi/malnutrició
8% Hipogonadisme primari
3% Tumors
2% Hipogonadisme
secundari (hipofisari)
1,5% Hipertiroidisme
1% Malaltia renal
R de progestàgens, prolactina,
insulina i leptina en la mama.
En un 50% dels casos hi han
antecedents familiars.
23. Ginecomàstia: ginecomàstia neonatal
Prevalença 50-70% dels RN. Aparició al néixer o abans de les 3
setmanes.
Situació fisiològica: síntesi en la unió fetoplacentària de grans
quantitats de estrona/estradiol a partir de DHEA.
No precisa: cap prova complementària, ni tractament, ni cap
derivació a especialista abans dels 2 anys de vida.
23
24. Ginecomàstia: ginecomàstia puberal
Predomini bilateral (75%), asimptomàtica o acompanyada de
símptomes locals.
No és el primer signe puberal: Tanner II-III (testes 8-10ml, edat 10-
13 anys).
Etiopatogènia multifactorial: disminució de SHBG a l’inici puberal i
més augment de l’activitat aromatasa.
24
25. Ginecomàstia: ginecomàstia puberal
Resolució espontània en 75-90% als 2-3 anys.
Seguiment clínic pediàtric cada 4-6 mesos amb actitud
tranquil·litzadora.
Precisa de proves + derivació si:
25
Evolució ràpida i progressiva
Ginecomàstia de gran tamany (> 4cm de diàmetre)
Galactorrea
Testes petits i escassa virilització o estancament puberal
Goll
Masses en testes o abdomen
Talla molt alta, creixement accelerat i/o hipogenitalisme
26. Ginecomàstia: anamnesi
26
Anamnesi:
● Inici i curs evolutiu dels símptomes amb el desenvolupament puberal.
● Presència d’altres símptomes generals: pèrdua o augment de pes, taquicàrdia, dolor o molèsties
testiculars, dolor abdominal...
● Descartar patologia de base
● Antecedents familiars de ginecomàstia.
● Fàrmacs sistèmics o tòpics.
27. Ginecomàstia: exploració i proves.
27
Exploració física:
● Descartar pseudoginecomàstia (adipomàstia).
● Pes, talla, IMC i estadiatge de Tanner. TA i FC.
● Palpar tiroides, testes i abdomen.
● Palpació de la mama.
Proves complementàries:
● Analítica: hemograma, bioquímica general, TSH, T4L, FSH i LH, prolactina,
Testosterona, 17- β -estradiol, DHEAS, Androstendiona, (βHCG).
• Cariotip si hipogonadisme.
● Eco mamària o testicular si signes locals d’alarma.
● TC abdominal si sospita causa orgànica d’origen SR o localització
extragonadal.
28. Ginecomàstia: diagnòstic diferencial
28
DD Ginecomàstia (G) G. Puberal G. Patològica
Edat Puberal Qualsevol edat
Inici puberal Abans de G Després de G
Freqüència Molt freqüent Poc freqüent
Malaltia crònica - +
EF Botó mamari
Resta EF normal
Asimetria, dur
Signes/ simptomes
de malaltia crònica
Dolor Local lleu Local més intens
Galactorrea - +/-
AS hormonal: FSH, LH, T lliure,
DHEAS, Prolactina.
Si sospita Sd Klinefelter:
Cariotip
Normal Alterada
Tractament No precisa. Controls clínics c/6mesos
de tamany mamari
Etiològic
Evolució Transitòria (90% en 2 anys es resol)
Derivar si no es resol en 2 anys.
Si evolució > 4 anys: mamoplàstia
periareolar o transareolar als 18 anys.
Permanent
29. Ginecomàstia: opcions terapèutiques
Existeixen pocs estudis i no hi ha uniformitat dels criteris de
valoració del benefici.
Farmacològic: Tamoxifè: acció antiestrogènica.
● Valorar si ginecomàstia no fibròtica amb símptomes locals importants i
problemes psicològics associats.
Cirurgia: mamoplàstia periareolar o transareolar als 18 anys, finalitzada la
pubertat.
29
Lawrence et al. J Pediatr 2004;145:71-6)
30. Ginecomàstia: maneig
30
Anamnesis: antecedents familiars i personals, fàrmacs, evolució i progressió, altra
simptomatologia associada.
EF: Tanner, talla, exploració testicular i abdominal.
Anamnesis: antecedents familiars i personals, fàrmacs, evolució i progressió, altra
simptomatologia associada.
EF: Tanner, talla, exploració testicular i abdominal.
Ginecomàstia
farmacològica
Ginecomàstia
farmacològica
Suspendre el fàrmacSuspendre el fàrmac
Ginecomàstia
neonatal
Ginecomàstia
neonatal
No precisa maneig si < 2
anys edat.
No precisa maneig si < 2
anys edat.
Ginecomàstia
puberal
Ginecomàstia
puberal
Tanner II o superior, < 4 cm,
sense signes d’alarma
Tanner II o superior, < 4 cm,
sense signes d’alarma
Seguiment ABS c/4-6 mesos i conducta
tranquil·litzadora
Seguiment ABS c/4-6 mesos i conducta
tranquil·litzadora
> 4 cm diàmetre i >2 anys
evolució
> 4 cm diàmetre i >2 anys
evolució DERIVACIÓ A ESPECIALISTADERIVACIÓ A ESPECIALISTA
Ginecomàstia
patològica
Ginecomàstia
patològica
ANALÍTICA + ECO
Mamària/testicular
ANALÍTICA + ECO
Mamària/testicular DERIVACIÓ A ESPECIALISTADERIVACIÓ A ESPECIALISTA
31. Ginecomàstia: maneig
31
Anamnesis: antecedents familiars i personals, fàrmacs, evolució i progressió, altra
simptomatologia associada.
EF: Tanner, talla, exploració testicular i abdominal.
Anamnesis: antecedents familiars i personals, fàrmacs, evolució i progressió, altra
simptomatologia associada.
EF: Tanner, talla, exploració testicular i abdominal.
Ginecomàstia
farmacològica
Ginecomàstia
farmacològica
Suspendre el fàrmacSuspendre el fàrmac
Ginecomàstia
neonatal
Ginecomàstia
neonatal
No precisa maneig
especialista si < 2 anys
edat.
No precisa maneig
especialista si < 2 anys
edat.
Ginecomàstia
puberal
Ginecomàstia
puberal
Tanner II o superior, < 4 cm,
sense signes d’alarma
Tanner II o superior, < 4 cm,
sense signes d’alarma
Seguiment ABS c/4-6 mesos i conducta
tranquil·litzadora
Seguiment ABS c/4-6 mesos i conducta
tranquil·litzadora
> 4 cm diàmetre i >2 anys
evolució
> 4 cm diàmetre i >2 anys
evolució DERIVACIÓ A ESPECIALISTADERIVACIÓ A ESPECIALISTA
Ginecomàstia
patològica
Ginecomàstia
patològica
ANALÍTICA + ECO
Mamària/testicular
ANALÍTICA + ECO
Mamària/testicular DERIVACIÓ A ESPECIALISTADERIVACIÓ A ESPECIALISTA
SIGNES D’ALARMA:
• Evolució ràpida i progressiva
• Ginecomàstia > 4cm de
diàmetre
• Galactorrea
• Testes petits i escassa
virilització o estancament
puberal
• Goll
• Masses en testes o abdomen
• Talla molt alta, creixement
accelerat i/o hipogenitalisme
33. Macroorquidisme: generalitats
Generalitats:
● Volum testicular > p95 per a la seva edat.
● En adult sa: 15-25 ml.
● Creixement bilateral i no dolorós.
● Infreqüent en nens i adolescents.
• Associat a retard psicomotor (Sd. X-fràgil).
33
Font: https://ovodonante.com
34. Macroorquidisme: anamnesi i exploració física
Anamnesi:
● Quan es va iniciar?uni/bilat? dolor?
● Retard psicomotor
● Història personal de tractament GH, HSC, càncers.
● Antecedents familiars.
Exploració física:
● Estadiatge de Tanner.
● Valorar tamany testicular (si més de 25 ml a través de eco: π/6 x
longitud x amplada).
● Examen neurològic.
● Descartar taques cafè amb llet i pigmentació perioral.
34
M. Álvarez-Acevedo García et al, An Pediatr (Barc)
2006;64:89-92 - Vol. 64 Núm.1
35. Macroorquidisme: proves complementàries
Analítica:
● Hemograma i LDH
● FSH, LH, Prolactina, Testosterona,
estradiol i 17OH-P.
● TSH i T4L
● Inhibina B i AMH ↑ tumors de Cèl.
Sertoli (Sd. Peutz-Jeghers, Complex
Carney), Sd. Mc.Cune-Albright.
● αFP i βHCG.
● Estudi genètic: gen FMR1.
35
Causes de macroorquidisme
Sd. X-Fràgil (FMR1, Xq27,3), Sd.
Atkin-Flaitz...
Tumors testiculars:
• Primaris: Sertoli, Leydig o cèl
germinals.
• Secundaris: leucèmia, linfoma,
metàstasis.
Hiperplàssia adrenal congènita
(HSC)
Displàsia quística del testicle
Microlitiasi
Hipotiroidisme central greu
Macroorquidisme benigne
idiopàtic
36. Macroorquidisme: proves, tractament i pronòstic
Estudis de la imatge:
● Ecografia testicular: tumors testiculars, microlitiasi i displàsia quística del testicle.
● EO si hipotiroidisme.
● Biopsia testicular: no sistemàtica (baixa E).
● Seminograma normal. Oligoespermia i teratospermia excepcionals.
Tractament:
● Específic de la causa: hipotiroidisme, HSC o tumors.
● Existeixen assajos clínics amb: inhibidors de FSH, altes dosis d’àc fòlic,…
Bon pronòstic funcional dels testicles (excepte en tumors).
36
37. Punts per emportar-se a casa...
Criptorquídia:
● Exploració dels genitals externs al néixer i als 6 mesos de vida. Si la
criptorquídia persisteix derivar a cirurgia pediàtrica.
● Criptorquídia bilateral i hipospàdies o altra alteració derivar a
endocrinòleg pediàtric.
● Fer seguiment anual o bianual en els casos de testicles retràctils.
Micropenis:
● Sempre s’ha de derivar a endocrinologia pediàtrica.
● El 50% són idiopàtics però sempre cal descartar
hipogonadismes.
● El tractament és hormonal substitutiu.
37
38. Punts per emportar-se a casa...
Ginecomàstia:
● La neonatal i puberal són fisiològiques i no precisen de derivació.
● En cas de ginecomàstia patològica s’ha de derivar a
l’especialista, sol·licitar analítica i valorar eco mamària/testicular.
Macroorquidisme:
● Entitat infreqüent en pediatria.
● Es troba present en el Síndrome de X-Fràgil.
● Cal descartar sempre: tumors testiculars primaris o secundaris,
hipotiroïdisme central i HSC.
38