Disorders of Sex Development (DSD) can occur when sexual development does not follow the typical path from female or male. The presentation discusses DSD, including causes like genetic factors, hormone imbalances, and syndromes. Evaluation involves medical history, physical exam, imaging, labs, and biopsy to determine chromosomal, gonadal and genital characteristics. Management considers gender assignment, surgery, hormones, counseling, and the child's potential for future sexual/reproductive functions and quality of life. Religious and cultural perspectives must also be considered in treatment.
Congenital Adr Hyperplasia (CAH) can appear at any age from birth to puberty where it can lead to ambiguous genitalia. It is due to absolute or relative deficiency of 17 Hydroxylase or 21 Hydroxylase enzyme.
AIS is a genetic condition where affected people have male chromosomes and male gonads with complete or partial feminization of the external genitals
An inherited X-linked recessive disease with a mutation in the Androgen Receptor (AR) gene resulting in:Functioning Y sex chromosome and abnormality on X chromosome
Congenital Adr Hyperplasia (CAH) can appear at any age from birth to puberty where it can lead to ambiguous genitalia. It is due to absolute or relative deficiency of 17 Hydroxylase or 21 Hydroxylase enzyme.
AIS is a genetic condition where affected people have male chromosomes and male gonads with complete or partial feminization of the external genitals
An inherited X-linked recessive disease with a mutation in the Androgen Receptor (AR) gene resulting in:Functioning Y sex chromosome and abnormality on X chromosome
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
Acute scrotum is a general term referring to an emergency condition affecting the contents or the wall of the scrotum.
There are a number of conditions that present acutely, predominantly with pain and/or swelling
A careful and detailed history and examination, and in some cases, investigations allow differentiation between these diagnoses. A prompt diagnosis is essential as the patient may require urgent surgical intervention
Testicular torsion refers to twisting of the spermatic cord, causing ischaemia of the testicle.
Testicular torsion results from inadequate fixation of the testis to the tunica vaginalis producing ischemia from reduced arterial inflow and venous outflow obstruction.
The prevalence of testicular torsion in adult patients hospitalized with acute scrotal pain is approximately 25 to 50 percent
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
Pharynx and Clinical Correlations BY Dr.Rabia Inam Gandapore.pptx
Disorder of sex development
1. Disorders of Sex Development (DSD)
Abdulmoein AlAgha, FRCPCH
Professor of Pediatric Endocrinology,
King Abdulaziz University Hospital,
Pediatric Departement
Jeddah, Saudi Arabia
E-mail: aagha@kau.edu.sa
Website: http://aagha.kau.edu.sa
2. Presentation Objectives
• Normal sexual development.
• Disorder sex development (DSD).
• Causes.
• An approach to child with genital anomalies.
• Focus on some of DSD conditions.
• Work-up.
• Management.
3. Basic concepts
Fetal sex differentiation:
▪Occurs at 7-14 weeks’ fetal age.
▪As a male requires:
▪ Sex-determining region of Y (SRY) gene.
▪ Bilateral testes producing Mullerian inhibiting
substance (MIS/MIF/AMH) & testosterone.
▪ 5-α-reductase enzyme (external genitalia).
▪ Testosterone and dihydrotestosterone. receptor
(internal and external genitalia).
▪As a female needs absence of the above needed factors of
male sex.
4. Human sexual differentiation
• Differentiation of the bipotential gonad into testis
or ovary due to presence or absence of Y-
chromosome genes especially SRY gene.
• Differentiation of the Wolffian ducts into
epididymitis, vasa differentia and seminal vesicles
due to effect of testosterone.
• Differentiation of the Mullerian ducts into uterus,
fallopian tubes & upper vagina due to absence of
AMH (anti-Mullerian hormone).
• Development of the external genitalia into penis,
scrotum ( due to DHT) or clitoris and labia majora
& minora (due to estradiol).
5. Mechanism by Which the Y Chromosome
Promotes Testicular Differentiation
• This is done through “Testicular Determinant Factor
(TDF)”.
• TDF locus is on distal short arm of Y -chromosome.
• TDF begins its action at 7 weeks of gestation.
• Loss of TDF leads to gonadal dysgenesis.
• TDF transfer to X-chromosome leads to XX-male.
6. Differentiation of external genitalia
• The external genitalia of both sexes are identical during
the first 7 weeks of gestation.
• Without the hormonal action of the testosterone &
dihydrotestosterone (DHT), external genitalia appear
phenotypically female.
• In the gonadal male, differentiation toward the male
phenotype actively occurs over the next 8 weeks.
• This differentiation is moderated by testosterone, which
is converted to 5-DHT by the action of an enzyme,
5-α reductase.
• DHT is bound to androgen receptors within the cytoplasm
and subsequently is transported to the nucleus, where it
leads to translation and transcription of genetic material.
10. XY karyotype
Testis
Sertoli cell
MIS
Degeneration
of Mullerian duct
Leydig cell
5α- reductase
Testosterone
Wolffian duct
Masculinisation
of internal genitalia
•Vas deferens
•Epididymis
•Seminal vesicle
DHT
•Genital tubercle
•Urogenital sinus
•Labioscrotal fold
XX karyotype
Ovary Absence
of MIS
Estradiol
Mullerian
duct
Formation of
•Glans Penis
•Penile shaft
•Scrotum
•Raphe
•Prostate
•Penile Urethra
Formation of
•Clitoris
•Labia majora
•Lbia minora
•Lower 2/3
Vagina
•Urethra
Formation of
•Uterus
•Fallopian
tubes
•Upper 1/3
Vagina
11. Human sexual differentiation
▪Incidence 1:4500 live births.
▪Human sexual differentiation is a highly
complex process under the control of multiple
genes & hormones.
15. Disorder of sexual differentiation can be subdivided
into four main steps: genetic, Gonadal, ductal, &
genital differentiation.
• Chromosomal sex (46 XY or 46 XX).
• Gonadal sex (testis or ovary).
• Internal duct sex (male or female internal genital
organs).
• External duct sex (male or female external
genitalia).
16.
17. 46 XX DSD
The commonest type in 30-50 % of all
cases of DSD
19. 46 XX DSD
Indications for evaluation for female phenotype with
any of the following features:
• Clitoromegaly: Clitoral width >6 mm or clitoral length
>9 mm).
• Posterior labial fusion: Anogenital ratio > 0.5.
• Single opening (common urogenital sinus) instead of a
separate opening for the urethra & vagina.
• Gonads palpable in the labioscrotal folds or the
inguinal region.
• Genital appearance discordant with the sex
chromosomes.
20. 46,XX DSD
• Individuals with 46,XX DSD will typically have
female internal genitalia (Mullerian-derived
structures ).
• External genitalia is virilized as a result of in utero
androgen exposure.
• The two major etiologic classes of 46,XX DSD are
exposure to fetal androgens & exposure to
maternal androgens.
• The main source of fetal androgens is congenital
adrenal hyperplasia (CAH).
21. 46,XX DSD
• Maternal androgen conditions are usually a
consequence of adrenal or ovarian tumors.
• Administration of exogenous androgenic
medications is a potential & preventable cause of
ambiguous genitalia.
• Placental Aromatase enzyme deficiency is another
cause of excess androgens in-utero.
23. 46 XY DSD
Indications for evaluation for male phenotype with
any of the following features:
• Bilaterally nonpalpable gonads.
• Severe hypospadias (scrotal or perineal ectopic meatus,
severe penile curvature, fusion of the foreskin with the
scrotum, and/or a small glans size (<14 mm before one
year of age).
• Any degree of hypospadias accompanied by unilateral or
bilateral cryptorchidism (nonpalpable gonad) and/or
micropenis (stretched penile length less than 2.5 cm in a
full-term infant).
• Genital appearance discordant with the sex
chromosomes.
24. 46,XY DSD
• The main etiologic causes that lead to under
virilized genitalia in 46XY neonate are:
• abnormal testis determination factor.
• defects in androgen biosynthesis & metabolism.
• resistance to androgens.
• malformation syndromes.
• It is important to note that a definitive
diagnosis/etiology for a newborn with 46,XY
genotype is often difficult to establish, and there
are many times, when nothing conclusive is
discovered.
26. Androgen Insensitivity Syndrome
• X-linked recessive disorder.
• AR gene is localized to Xq11-Xq12.
• Two forms of androgen insensitivity syndrome
have been described:
• complete (CAIS) & partial (PAIS).
• The defect often lies in the sensitivity of target
receptors to the androgens.
• Wide range of presentations.
27. Complete Androgen Insensitivity (CAIS)
• Must be suspected in a normal female with
palpable gonad (s) at the inguinal region.
• 1-2% of phenotypic females with inguinal hernias
have CAIS.
• Testes are normal prepubertal.
• After puberty, the somniferous tubules become
atrophic, with no spermatogenesis.
• Risk of malignancy is low < 25 years of age.
28. Partial Androgen Insensitivity (PAIS)
• The external genitalia are predominantly male or
ambiguous.
• Wide range of presentations.
• Pubic & axillary hair develops.
• Gynecomastia.
• Poorly developed male sex characters.
30. 5-α - reductase enzyme deficiency
• Autosomal Recessive disorder.
• Mapped to 2p23 chromosome.
• Typically, this enzyme converts testosterone to
dihydrotestosterone (DHT), which, in turn, acts on
the genital tubercle and swellings, & the
urogenital sinus to promote external genitalia
formation & the formation of the prostate.
31. Gonadal Disorders
The term Gonadal disorders encompasses
both Ovotesticular DSD (ODSD) & Gonadal
dysgenesis
32. Ovotesticular DSD
• Newborn has both ovarian & testicular tissues.
• There are various combinations of these two types of
tissues:
• one ovary & one testis
• 2 ovotestes
• one ovotestis partnered with either an ovary or a
testis.
• The external genitalia could be male or female, but most
often it is ambiguous in nature.
• The most common genotype (over 50% patients) is 46,XX,
30% are mosaic (46,XY/46,XX) or (46,XY/47,XXY or
45,X/46,XY), while small minority have a 46,XY genotype.
33. Ovotesticular DSD
• 46,XX patients may have translocation of the SRY gene;
however, in most cases the genes responsible have yet to
be identified.
• The degree of virilization of the external genitalia depends
heavily on the ability of the testicular tissue to secrete
testosterone, and whether or not the Mullerian ducts have
matured into female structures.
• Often, the differentiation of internal & external genitalia
will coincide with the gonad on the ipsilateral side.
• For example, if a testis is present on the left side, the
Wolffian duct on the left side will remain & differentiate
into the appropriate structures and the left side of the
Mullerian system will regress (ipsilateral Mullerian
inhibiting substance).
34. Mixed Gonadal Dysgenesis
• Subnormal production of testosterone.
• Insufficient production of MIS.
• Presence of both structures internally.
• Gonadal tumors occur in 30%.
• Early removal of dysgenetic gonads to prevent
risk of gonadoblastoma or germinoma.
• 90% of 45X / 46XY have normal male genitalia,
remaining 10% have ambiguity.
35. 46,XY gonadal dysgenesis
• The estimated prevalence is 1:100,000 births.
• In complete 46,XY gonadal dysgenesis (Swyer syndrome),
the fibrous streak gonad cannot secrete anti-müllerian
hormone (AMH).
• This results in persistent Mullerian structures and a
female phenotype.
• The phenotype of partial gonadal dysgenesis can range
from genital ambiguity to an under virilized male.
• In partial form, because of the phenotypic variability,
some patients are diagnosed in infancy with DSD, while
others are not diagnosed until puberty when they
present with primary amenorrhea.
36. 46 XY Gonadal dysgenesis
• Bilateral dysgenetic gonad development.
• Ranging from Gonadal streaks, dysgenetic testis to
normal testis.
• 30% risk of malignancy > age of 30.
• Normal amount of SRY gene.
• The degree of masculinization depends on the
extent of testicular differentiation.
37. 46 XY Gonadal dysgenesis
• Testosterone level low – normal.
• HCG test is blunted (dysgenetic gonad).
• Presence of both mullerian & Wolffian structures.
• The diagnosis is made by Gonadal histology.
• Preferred sex of rearing is female (presence of
uterus).
• Dysgenetic testes have to be removed.
39. Laboratory evaluation
• Chromosomal analysis (essential for all cases)
• To rule out congenital adrenal hyperplasia:
• 17α- hydroxyprogestrone.
• Fasting glucose.
• Serum electrolytes & renal function.
• Plasma ACTH & Cortisol.
• Plasma Renin activity & Aldosterone.
• Urinary steroid profiles.
In cases of 46 XY DSD:
• HCG stimulation test to evaluate testosterone
/ DHT ratio (pre & post HCG stimulation test).
40. Imaging studies & Laparoscopy
• Abdomen & Pelvic U/S is essential to evaluate the
presence /Absence internal male or female internal
organs.
• Adrenal U/s (size ofAdrenal gland /hyperplasia or tumor.
• Genitogram (presence / absence of vaginal tract &
urogenital fistula).
• MRI of the pelvis (if U/S not conclusive).
• Laparoscopy / Laparotomy.
• Gonadal biopsy & histology (pure ovarian /testicular /
ovotestis/ mature or dysgenetic structures).
41. To ensure that the affected individual has a high
quality of life , medical practitioners must quickly
and correctly assign the individual’s gender &
effectively relieve the family’s concerns and anxiety.
42. Management consideration
Gender assignment depends on:
• Potential for future sexual & reproductive
functions.
• Anatomical abnormalities.
• Capabilities of reconstructive surgery.
• In micropenis, if penile size doesn’t reach 2.5 cm
(after 3 injections of 25 mg testosterone), male
assignment is not advisable.
• Religious consideration is important.
43. Management
• Gender assignment usually made when chromosome
status & Mullerian duct status are known.
• Occasionally need to defer until biochemical results are
Known.
• Consultation with pediatric urologist & endocrinologist
necessary if:
• bilateral ovaries are present, usually reared as female.
• Males with poor androgen insensitivity difficult to
assign.
• Psychological counseling to family (and later to patient).
44. Management
• Management of CAH if present.
• Female surgical correction of ambiguous genitalia
(procedure depending on age).
• Males:
• Testosterone injections for micropenis.
• HCG course followed by orchiopexy if necessary for
cryptorchidism.
• No circumcision if hypospadias.
• Do not remove Mullerian structures.
• Gonadectomy if streak or dysgenetic gonads with Y
chromosome (risk of malignancy high from
infancy).
45. Islamic view of DSD management : Fatwa From Saudi
Arabia (2011)
1) Sex change operation (in non-DSD individual) is totally prohibited &
considered to be criminal in accordance with the Holy Quran & the
Prophet’s sayings.
2) Those who have both male & female organs require further
investigation and, if the evidence is more suggestive of a male
gender, then it is permissible to treat the individual medically
(i.e., with hormones or surgery)in order to eliminate the ambiguity
and to raise him as a male and vice versa.
3) Physicians are required to explain to the child’s guardians the
results of the medical investigations and whether the evidence
indicates that the child is male or female in order to keep the
guardians well informed.
46. Parental counseling
• Parents should see the genitalia.
• Clear statement that it will be possible to decide
whether the child is either male or female.
• Investigations are needed to determine the sex identity.
• Postpone naming of the baby & birth certificate till tests
results are ready.
• When results back, the diagnosis, prognosis & treatment
options are fully discussed
• Parent’s should be involved in taking the decision of
“gender assignment.
47. • When results back, the diagnosis, prognosis and
treatment options are fully discussed
• Parent’s should be involved in taking the decision of
“gender assignment "and how the child will develop
sexually as an adult?