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
The word "congenital" means "at birth."
"Anomaly" comes from the Greek word
"anomalos" meaning "uneven" or "irregular.“
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.
Sign and symptoms:-
Inability to void is a common presentation.
an enlarged bladder that may be detectable through the
abdomen as a large mass
weak urine stream
bedwetting or wetting pants after the child has been toilettrained
poor weight gain
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.
“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.”
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
Growth: The use of growth hormone is indicated in children with a
low birth weight who do not grow at a healthy rate.
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.
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.
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.
“The condition in which the testes failed to descend into the scrotum
and are retained within the abdomen or inguinal canal.”
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.
Operation of orchidopexy is necessary to bring testes into the
scrotum before puberty.
“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
Prenatal causes of intersex conditions include many genetic and
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
Parents should understand controversies
and changes in treating intersex in
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.
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
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
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
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
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
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
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
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.
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.
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
Sign and symptoms:Symptoms will vary, depending on the type of congenital adrenal
hyperplasia someone has and their age when the disorder is
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
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
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
“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
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
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
Another hormone called diethylstilbestrol (DES), which is a form of
estrogen, can cause abnormalities of the uterus, vagina, and cervix in
Alcohol, smoking, and other drugs
Alcohol use is a well-known cause of congenital abnormalities during
Abnormalities caused by alcohol in pregnancy include deformities of the face,
arms, and legs, heart conditions, mental retardation, and fetal growth
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
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
P: Parvovirus B19, also known as fifth disease
O: Other infections such as group B streptococcus, listeria, candida
H: Herpes simplex virus
E: Everything else sexually transmitted such as gonorrhea and
•The incidence ranges from
3.4% to 5.8% in full term
•It decreases to 0.8% in one
year old boys.
•Cause is unclear, but
androgens may have an
Undescended testis can be
classified by its location:
2.superficial inguinal pouch,
•In 80% of cases, the
undescended testis will be
palpable in the inguinal canal.
•Ectopic testis (testis outside
path of normal descent) may
5.Superficial inguinal pouch.
Patients with undescended testes have two
1.increased incidence of testicular cancer: up
to 10 times higher than in a normal testis
•Spontaneous descent of undescended testis
is rare after the age of one year.
Commonly confused with undescended testis.
•the testis can be delivered into bottom of
•low undescended testis will immediately pop
back to its undescended position after being
congenital condition results
in underdevelopment of urethra.
•affects 3 per 1000 male
•Consists of 3 anomalies:
(1) Abnormal ventral opening of
the urethral meatus.
(2) Ventral curvature of the penis
(3) Deficient prepuce ventrally.
Site Of the meatus.
- Circumcised or
- Penile curvature.
Congenital condition in
which the urethra opens
on dorsal surface of penis..
•Usually associated with bladder extrophy
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).
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
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.
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 developmental disorder of
the reproductive system characterized by a progressive loss of
primordial germ cells on the developing gonads of an embryo.
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.
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.
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
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
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
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
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.
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.