CONGENITAL
disorders in
childrens
Presented by:
Dr
Barkam.NAGARAJU
MBBS





A congenital disorder(an, or congenital disease,
is a condition existing at birth and often before
birth, or that ...
1. Chromosomal
abnormalities

Numerical abnormalities

Autosomes

Down syndrome

Sex
chromosomes

Turner
syndrome

Structu...
2. Single gene defect
(Mendelian inheritance)

Autosomal dominant

Congenital
spherocytosis

Autosomal recessive

x_-linke...
3. Mitochondrial DNA disorders

4. Multifactorial diseases

DM
HTN
Spina bifida

5. Teratogens
Genitourinary is a word that refers to the urinary and genital
organs. Most neonatal genitourinary problems are due to
con...


Sign and symptoms:-



Inability to void is a common presentation.
an enlarged bladder that may be detectable through ...


Potter’s syndrome:-

“Potter's Syndrome is one of several serious or fatal kidney abnormalities. In

Potter's (or Potte...









Treatment:
Nutrition: Adequate nutrition is required. Nasogastric feeding may be
indicated in infants.
Elect...










Hypospadias:Hypospadias is a birth defect of the penis that commonly has four
characteristics: The urethra...


Cryptorchidism:-

“The condition in which the testes failed to descend into the scrotum
and are retained within the abd...


INTERSEX:-

“Intersex” is a general term used for a variety of conditions in which a
person is born with a reproductive...
Treatment: Ideally, a team of health care
professionals with expertise in intersex
should work together to understand and...


AMBIGIUOUS GENITALIA:-

Ambiguous genitalia is a birth defect where the outer
genitals do not have the typical appearan...












Causes:-

Pseudohermaphroditism. The genitalia are of one sex, but some physical
characteristics of th...









Treatment:Medications
Hormone medications may help correct the hormonal imbalance. In
some children, hormon...


CONGENITAL ADRENAL HYPERPLASIA:-

“Congenital adrenal hyperplasia refers to a group of inherited disorders
of the adren...











Treatment:The goal of treatment is to return hormone levels to normal, or near normal.
This is done by ta...


TERATOGENIC CAUSES:-

“Teratogens are substances or other factors that can cause congenital
abnormalities, which are al...








Isotretinoin, which is used to treat severe acne, is also linked with a
number of congenital abnormalities. Th...
Alcohol, smoking, and other drugs
Alcohol use is a well-known cause of congenital abnormalities during
pregnancy.
Abnormal...
Infections in the mother






“CHEAP TORCHES” is an acronym for a special group of infections
that can affect the deve...
•The incidence ranges from
3.4% to 5.8% in full term
boys
•It decreases to 0.8% in one
year old boys.
•Cause is unclear, b...
Undescended testis can be
classified by its location:
1.upper scrotum,
2.superficial inguinal pouch,
3.inguinal canal,
4.a...
•Ectopic testis (testis outside
path of normal descent) may
be:
1.penile,
2.femoral,
3.perineal,
4.retrovesical.
5.Superfi...







Patients with undescended testes have two
major concerns:
1.increased incidence of testicular cancer: up
to 10 ...





Commonly confused with undescended testis.
•the testis can be delivered into bottom of
scrotum.
•low undescended t...
congenital condition results
in underdevelopment of urethra.
•affects 3 per 1000 male
infants.
•Consists of 3 anomalies:
(...
Site Of the meatus.
- Circumcised or
not.
- Associated
anomalies: meatal
stenosis, or
undecended testis.
- Penile curvatur...






Congenital condition in
which the urethra opens
on dorsal surface of penis..
•Usually associated with bladder ex...
Failure of development of
the lower abdominal wall.
• Anomaly include defect
in anterior abdominal wall,
defect in anterio...
Arcuate uterus
 Bicornuate uterus
 Clitoromegaly
 Gonadal dysgenesis
 Müllerian agenesis
 Progestin-induced virilisat...






The arcuate uterus is a form of a uterine anomaly or variation
where the uterine fundus displays a concave contou...








Müllerian agenesis is a congenital malformation characterized by
a failure of the Müllerian duct to develop, r...
A unicornuate uterus represents a uterine malformation
where the uterus is formed from one only of the paired
Müllerian du...








Uterus didelphys (sometimes also uterus didelphis)
represents a uterine malformation where the uterus is prese...






Vaginal Atresia is a birth defect or congenital
abnormality of the female genitourinary system that
manifests its...




Conditions listing Vaginal atresia as a symptom may
also be potential underlying causes of Vaginal atresia.
Our data...


Success depends on the presence of at least a
vaginal dimple and requires a highly
motivated patient who, wishing to av...
THANK YOU
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Congenital disorders in childrens

  1. 1. CONGENITAL disorders in childrens Presented by: Dr Barkam.NAGARAJU MBBS
  2. 2.    A congenital disorder(an, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life (neonatal disease), regardless of causation. Of these diseases, those characterized by structural deformities are termed "congenital anomalies" and involve defects in or damage to a developing fetus. Or The word "congenital" means "at birth." "Anomaly" comes from the Greek word "anomalos" meaning "uneven" or "irregular.“
  3. 3. 1. Chromosomal abnormalities Numerical abnormalities Autosomes Down syndrome Sex chromosomes Turner syndrome Structural abnormalities 1. 2. 3. 4. Deletion Duplication Inversion Translocation Congenital abnormalities (if unbalanced)
  4. 4. 2. Single gene defect (Mendelian inheritance) Autosomal dominant Congenital spherocytosis Autosomal recessive x_-linked Cystic fibrosis Duchenne muscular dystrophy
  5. 5. 3. Mitochondrial DNA disorders 4. Multifactorial diseases DM HTN Spina bifida 5. Teratogens
  6. 6. Genitourinary is a word that refers to the urinary and genital organs. Most neonatal genitourinary problems are due to congenital anomalies, it is may be finding a single umbilical artery in the umbilical cord. The first clues to urinary dysfunction are the quantity and quality of the urinary stream, and this should be scrutinized in every newborn. Common signs of dysfunction include anuria, hematuria, and masses. Anuria may be caused by obstruction, a vascular disorder, or renal agenesis or dysplasia. In the male, obstruction is commonly caused by posterior urethral valves.  Posterior uretheral valves:- This is an abnormality affecting boys the presence of valves in the posterior urethra prevents the normal outflow of urine. As a result the bladder distention causing back pressure on the ureters and to the kidneys.
  7. 7.  Sign and symptoms:-  Inability to void is a common presentation. an enlarged bladder that may be detectable through the abdomen as a large mass painful urination weak urine stream bedwetting or wetting pants after the child has been toilettrained poor weight gain  Causes:-       PUV are the most common cause of severe types of urinary tract obstruction in children. It is thought to develop in the early stages of fetal development. The abnormality affects only male infants. This disorder is usually sporadic (occurs by chance). However, some cases have been seen in twins and siblings, suggesting a genetic component.
  8. 8.  Potter’s syndrome:- “Potter's Syndrome is one of several serious or fatal kidney abnormalities. In Potter's (or Potter) syndrome the baby's kidneys do not develop in the first few weeks of life in the womb. The baby's kidneys are essential for the production of amniotic fluid in the womb. If there are no kidneys, there is little or no amniotic fluid (this is known as oligohydramnios) to expand the womb around the baby and to allow the baby to grow and move. The womb remains small and in its confined space the baby's lungs cannot develop properly. Many babies with Potter's syndrome are stillborn. In those who are born alive, the immediate cause of death is failure to breathe (respiratory failure) due to underdeveloped (hypoplastic) lungs, usually one or two days after delivery. Even if this problem is treated the baby cannot survive without kidneys. (Potter's syndrome is also known as Renal Agenesis, which simply means that the kidneys did not developed.”
  9. 9.      Treatment: Nutrition: Adequate nutrition is required. Nasogastric feeding may be indicated in infants. Electrolyte abnormalities such as hypocalcemia and hyperphosphatemia can be treated with medications, including calcium carbonate and vitamin D. Anemia is treated with oral or parenteral iron and erythropoietin stimulating agents. Growth: The use of growth hormone is indicated in children with a low birth weight who do not grow at a healthy rate.
  10. 10.       Hypospadias:Hypospadias is a birth defect of the penis that commonly has four characteristics: The urethral opening is located on the underside of the penis, instead of the tip, and may exit the penis anywhere along its shaft as high as the scrotum. The urethral opening is unusually narrow. The entire foreskin may be bunched on the topside of the penis. The penis itself may be curved to one side. Causes:- The causes of hypospadias are unknown. There seems to be a genetic association, since a baby boy with a family history of hypospadias is slightly more likely to be born with the condition.     Treatment:- Hypospadias is treated with surgery, usually when the child is between six and 18 months old. The aims of surgery include repositioning the urethral opening at the tip of the penis, removing the abnormal foreskin (which gives a circumcised appearance), and correcting the bend in the penis (if it is present) to allow sexual function. It is important not to have your son circumcised before the hypospadias repair, in case the foreskin is needed.
  11. 11.  Cryptorchidism:- “The condition in which the testes failed to descend into the scrotum and are retained within the abdomen or inguinal canal.”  Causes:- About five per cent of all boys are born with this condition. Premature and low birth weight babies are at increased risk.  Sign and symptoms:-  The symptoms of undescended testicles include:The scrotum is empty on the affected side. Sometimes, the scrotum is empty on both sides. The condition is painless. Urination is not affected.  Treatment:-     Operation of orchidopexy is necessary to bring testes into the scrotum before puberty.
  12. 12.  INTERSEX:- “Intersex” is a general term used for a variety of conditions in which a person is born with a reproductive or sexual anatomy that doesn’t seem to fit the typical definitions of female or male. For example, a person might be born appearing to be female on the outside, but having mostly male-typical anatomy on the inside.     Causes:There are many causes of intersex conditions in infants. They can be roughly divided into prenatal (before birth) and postnatal (immediately following birth). the most frequent and disturbing of postnatal causes are circumcision accidents that result in the permanent loss of an infant boy’s penis. Prenatal causes of intersex conditions include many genetic and chromosomal conditions.
  13. 13. Treatment: Ideally, a team of health care professionals with expertise in intersex should work together to understand and treat the child with intersex -- and to understand, counsel, and support the entire family.    Parents should understand controversies and changes in treating intersex in recent years. Surgery was often recommended. It was considered easier to reconstruct female genitalia than functioning male genitalia, so if the "correct" choice was not clear, the child was often assigned to be a girl.
  14. 14.  AMBIGIUOUS GENITALIA:- Ambiguous genitalia is a birth defect where the outer genitals do not have the typical appearance of either a boy or a girl.             Sign and Symptoms:- Usually, ambiguous genitalia in genetic females (babies with two X chromosomes) has the following features: An enlarged clitoris that looks like a small penis The urethral opening (where urine comes out) can be along, above, or below the surface of the clitoris. he labia may look like a scrotum The infant may be thought to be a male with undescended testicles Sometimes a lump of tissue is felt in the labia, further making it look like a scrotum with testicles. In a genetic male (one X and one Y chromosome), ambiguous genitalia usually include the following features: A small penis (less than 2-3 centimeters or 0.8-1.2 inches) that looks like an enlarged clitoris (the clitoris of a newborn female is normally somewhat enlarged at birth). The urethral opening may be along, above, or below the penis; it can be as low as on the peritoneum, further making the infant appear to be female. There may be a small scrotum that is separated and looks like labia. Undescended testicles commonly occur with ambiguous genitalia.
  15. 15.         Causes:- Pseudohermaphroditism. The genitalia are of one sex, but some physical characteristics of the other sex are present. Mixed gonadal dysgenesis (MGD). An intersex condition in which there are some male structures (gonad, testis), as well as a uterus, vagina, and fallopian tubes Congenital adrenal hyperplasia. This condition has several forms, but the most common form causes the genetic female to appear male. Many states test for this potentially life-threatening condition during newborn screening exams. Lack of testosterone cellular receptors. Even if the body makes the hormones needed to develop into a physical male, the body cannot respond to those hormones. This produces a female body-type, even if the genetic sex is male. Lack of production of certain hormones can cause the embryo to develop with a female body type, regardless of genetic sex If the mother takes certain medications (such as androgenic steroids), they may make a genetic female look more male Chromosomal abnormalities
  16. 16.       Treatment:Medications Hormone medications may help correct the hormonal imbalance. In some children, hormones may be administered shortly after birth and may be the only treatment necessary. Surgery In children with ambiguous genitalia, surgery may be used to: Preserve normal sexual function Create more natural-looking genitals For girls with ambiguous genitalia, the sex organs often work normally despite the ambiguous outward appearance. If a girl's vagina is hidden under her skin, surgery in childhood can help with sexual function later. For boys, surgery to reconstruct an incomplete penis may improve appearance and make erections possible.
  17. 17.  CONGENITAL ADRENAL HYPERPLASIA:- “Congenital adrenal hyperplasia refers to a group of inherited disorders of the adrenal gland. It is an autosomic recessive condition.”        Causes:People have 2 adrenal glands, one located on top of each of their kidneys. These glands make hormones, cortisol and aldosterone, that are essential for life. People with congenital adrenal hyperplasia lack an enzyme the adrenal gland needs to make the hormones. At the same time, the body produces more androgen, a type of male sex hormone. This causes male characteristics to appear early (or inappropriately). Sign and symptoms:Symptoms will vary, depending on the type of congenital adrenal hyperplasia someone has and their age when the disorder is diagnosed. Girls with a more severe form often have abnormal genitals at birth and may be diagnosed before symptoms appear. Boys will appear normal at birth even if they have a more severe form.
  18. 18.       Treatment:The goal of treatment is to return hormone levels to normal, or near normal. This is done by taking a form of cortisol, most often hydrocortisone, three times per day. People may need additional doses of medicine during times of stress, such as severe illness or surgery. The health care provider will determine the genetic sex of the baby with abnormal genitalia by checking the chromosomes. Girls with male-looking genitals may have surgery during infancy to correct the abnormal appearance. Steroids used to treat congenital adrenal hyperplasia do not usually cause side effects, such as obesity or week bones. It is important for parents to report signs of infection and stress to child's health care provider because the child may need more medication. Steroids cannot be stopped suddenly because doing so may lead to adrenal insufficiency.
  19. 19.  TERATOGENIC CAUSES:- “Teratogens are substances or other factors that can cause congenital abnormalities, which are also called birth defects. Usually these abnormalities arise in the third to eighth weeks of pregnancy, when the major organ systems are forming. Examples of teratogens include certain chemicals, medications, and infections or other diseases in the mother.”  Chemicals and medications  It is difficult to determine whether a particular chemical or medication causes congenital abnormalities. This is because many women take medications during pregnancy, and most studies have to rely on the mother’s memory of what she took while she was pregnant.  Some anti-epileptic drugs are associated with a wide array of birth defects, such as cardiovascular abnormalities, cleft palate, and microcephaly, which is a condition where the brain is too small. These drugs include phenytoin, valproic acid, and trimethadione. Women with epilepsy need special monitoring and care during pregnancy, which may include a change in medication.  Warfarin, a blood-thinning drug, is a teratogen. Warfarin can cause central nervous system defects, including mental retardation, as well as problems with the optic nerves.  Drugs called angiotensin-converting enzyme (ACE) inhibitors, which are used to treat high blood pressure, can cause a number of problems during pregnancy. ACE inhibitors can cause fetal growth restriction, problems with the baby’s kidneys, and sometimes death of the baby during pregnancy.
  20. 20.     Isotretinoin, which is used to treat severe acne, is also linked with a number of congenital abnormalities. These include cleft palate, heart defects, abnormalities of the outer ears, and underdevelopment of the lower jaw. Isotretinoin is also linked with neural tube defects. Some types of tranquilizers, such as phenothiazine and lithium, are thought to be teratogens. Similarly, drugs used to treat anxiety, such as diazepam, are linked with congenital abnormalities such as cleft lip or palate. Hormones called androgens and progestins have been shown to make female fetuses more masculine. The baby’s clitoris may be larger than normal, and the outer lips surrounding her genitals may be fused. Another hormone called diethylstilbestrol (DES), which is a form of estrogen, can cause abnormalities of the uterus, vagina, and cervix in girls.
  21. 21. Alcohol, smoking, and other drugs Alcohol use is a well-known cause of congenital abnormalities during pregnancy. Abnormalities caused by alcohol in pregnancy include deformities of the face, arms, and legs, heart conditions, mental retardation, and fetal growth restriction. Cigarette smoking is linked with fetal growth restriction and premature birth. Smoking may also cause problems with the development of the brain, cardiovascular system, and respiratory system. Exposure to marijuana during pregnancy may result in low birth weight, intracranial bleeding, jitteriness, low blood sugar, low levels of calcium in the blood, or an infection of the blood called sepsis. The use of opioid drugs, such as heroin or methadone, during pregnancy can lead to fetal growth restriction, premature birth, and low birth weight. Cocaine use is known to cause numerous problems during pregnancy. These include miscarriage, fetal growth restriction, and problems with the development of the urinary system or genital tract
  22. 22. Infections in the mother    “CHEAP TORCHES” is an acronym for a special group of infections that can affect the developing baby during pregnancy. CHEAP TORCHES stands for the following: C: Chickenpox and shingles H: Hepatitis B, C, D, E E: Enteroviruses, a group of viruses including poliovirus A: AIDS P: Parvovirus B19, also known as fifth disease T: Toxoplasmosis O: Other infections such as group B streptococcus, listeria, candida R: Rubella C: Cytomegalovirus H: Herpes simplex virus E: Everything else sexually transmitted such as gonorrhea and chlamydia S: Syphilis
  23. 23. •The incidence ranges from 3.4% to 5.8% in full term boys •It decreases to 0.8% in one year old boys. •Cause is unclear, but androgens may have an important role.
  24. 24. Undescended testis can be classified by its location: 1.upper scrotum, 2.superficial inguinal pouch, 3.inguinal canal, 4.abdomen. •In 80% of cases, the undescended testis will be palpable in the inguinal canal.
  25. 25. •Ectopic testis (testis outside path of normal descent) may be: 1.penile, 2.femoral, 3.perineal, 4.retrovesical. 5.Superficial inguinal pouch.
  26. 26.     Patients with undescended testes have two major concerns: 1.increased incidence of testicular cancer: up to 10 times higher than in a normal testis 2.subfertility. •Spontaneous descent of undescended testis is rare after the age of one year.
  27. 27.    Commonly confused with undescended testis. •the testis can be delivered into bottom of scrotum. •low undescended testis will immediately pop back to its undescended position after being released.
  28. 28. congenital condition results in underdevelopment of urethra. •affects 3 per 1000 male infants. •Consists of 3 anomalies: (1) Abnormal ventral opening of the urethral meatus. (2) Ventral curvature of the penis (chordee). (3) Deficient prepuce ventrally.
  29. 29. Site Of the meatus. - Circumcised or not. - Associated anomalies: meatal stenosis, or undecended testis. - Penile curvature.
  30. 30.     Congenital condition in which the urethra opens on dorsal surface of penis.. •Usually associated with bladder extrophy (ectopia vesicae).
  31. 31. Failure of development of the lower abdominal wall. • Anomaly include defect in anterior abdominal wall, defect in anterior bladder wall and epispadias (dorsal penile opening).
  32. 32. Arcuate uterus  Bicornuate uterus  Clitoromegaly  Gonadal dysgenesis  Müllerian agenesis  Progestin-induced virilisation        Rectovaginal fistula Unicornuate uterus Uterine malformation Uterine septum Uterus didelphys Vaginal atresia Vaginal septum U cont.
  33. 33.    The arcuate uterus is a form of a uterine anomaly or variation where the uterine fundus displays a concave contour towards the uterine cavity. Normally the fundus of the uterus is straight or convex on anterior-posterior imaging but in the arcuate uterus it dips into the cavity and may form a small septation. The distinction between an arcuate uterus and a septate uterus is not standardized. A bicornuate uterus or bicornate uterus, commonly referred to as a "heart-shaped" uterus, is a type of uterine malformation where two "horns" form at the upper part of the uterus. A bicornuate uterus is formed during embryogenesis. The fusion process of the upper part of the Müllerian ducts (Paramesonephric ducts) is altered. As a result the caudal part of the uterus is normal while the cephalo part is bifurcated.
  34. 34.     Müllerian agenesis is a congenital malformation characterized by a failure of the Müllerian duct to develop, resulting in a missing uterus and fallopian tubes and variable malformations of the upper portion of the vagina It is the third most common cause of primary amenorrhoea after pregnancy and gonadal failure (such as from Turner syndrome). The condition is also called Mayer-Rokitansky-Kuster-Hauser syndrome or MRKH Gonadal dysgenesis is any inherited[1] developmental disorder of the reproductive system characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo.[2] This loss leads to extremely hypoplastic (underdeveloped) and dysfunctioning gonads mainly composed of fibrous tissue, hence the name streak gonads For this reason, in gonadal dysgenesis the accompanying hormonal failure also prevents the development of secondary sex characteristics in either sex, resulting in a sexually infantile female appearance and infertility.
  35. 35. A unicornuate uterus represents a uterine malformation where the uterus is formed from one only of the paired Müllerian ducts while the other Müllerian duct does not develop or only in a rudimentary fashion. The sometimes called hemi-uterus has a single horn linked to the ipsilateral fallopian tube that faces its ovary. A uterine malformation is a type of female genital malformation resulting from an abnormal development of the Müllerian duct(s) during embryogenesis. Symptoms range from amenorrhea, infertility, recurrent pregnancy loss, and pain, to normal functioning depending on the nature of the defect.
  36. 36.     Uterus didelphys (sometimes also uterus didelphis) represents a uterine malformation where the uterus is present as a paired organ as the embryogenetic fusion of the mullerian ducts failed to occur. As a result there is a double uterus with two separate cervices, and often a double vagina as well. Each uterus has a single horn linked to the ipsilateral fallopian tube that faces its ovary. A vaginal septum is a congenital partition within the vagina; such a septum could be either longitudinal or transverse. A longitudinal vaginal septum develops during embryogenesis when there is an incomplete fusion of the lower parts of the two mullerian ducts. As a result, there is a double vagina. A transverse septum can form during embryogenesis when the mullerian ducts fuse improperly to the urogenital sinus. A complete transverse will block menstrual flow and is a cause of primary amenorrhea
  37. 37.    Vaginal Atresia is a birth defect or congenital abnormality of the female genitourinary system that manifests itself in the absence of a vagina (vaginal agenesis), or a deformed and nonfunctional vagina (Vaginal Atresia). It is frequently associated with Mayer-RokitanskyKüstner-Hauser (MRKH) syndrome, in which the most common result is an absent uterus in conjunction with a deformed or missing vagina, despite the presence of normal ovaries and normal external genitalia. When a doctor diagnoses Vaginal Atresia, there are numerous remedies based on the exact details of the condition. In some cases, surgery can repair the defect or a new vagina can be fabricated using an intestinal graft.
  38. 38.   Conditions listing Vaginal atresia as a symptom may also be potential underlying causes of Vaginal atresia. Our database lists the following as having Vaginal atresia as a symptom of that condition Pathphysiology:Uterovaginal atresia in patients with RMKH syndrome is best explained by the failure of the caudal development of the müllerian ducts. Failures at the level of the vaginal plate may explain the variants of transverse vaginal septum. Although the vagina is embryologically derived from structures of both the müllerian and urogenital sinuses, how much each anlage contributes to final normal development remains unclear.
  39. 39.  Success depends on the presence of at least a vaginal dimple and requires a highly motivated patient who, wishing to avoid extensive surgical procedures, is willing to continue long-term dilation. Problems of stenosis, dyspareunia (20%), and decreased vaginal lubrication have made this option unatactive for many patients.
  40. 40. THANK YOU
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