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A general term for a group of disorders which involve hyperplasia (or malignant tumours) of the adrenal cortex. Features include masculinisation of women, feminisation of men or precocious sexual development of children. 


------ Mondofacto dictionary

(See also Congenital Adrenal Hyperplasia (CAH))

Definition: Ambiguous genitalia is a birth defect where the outer genitals do not have the typical appearance of either a boy or a girl.

The genetic sex of a child is determined at conception. The mother's egg cell (ovum) contains an X chromosome, while the father's sperm cell contains either an X or a Y chromosome. These X and Y chromosomes determine the child's genetic sex.

Normally, an infant inherits one pair of sex chromosomes -- one X from the mother and one X or one Y from the father. Thus, it is the father who "determines" the genetic sex of the child. A baby who inherits the X chromosome from the father is a genetic female (two X chromosomes). A baby who inherits the Y chromosome from the father is a genetic male (one X and one Y chromosome). The male and female reproductive organs and genitals both arise from the same tissue in the fetus.

If the process that causes this fetal tissue to become "male" or "female" is disrupted, ambiguous genitalia can develop. This genitalia makes it difficult to classify the infant as male or female. The extent of the ambiguity varies. In very rare instances, the physical appearance may be fully developed as the opposite of the genetic sex. For example, a genetic male may have developed the appearance of a normal female. 

© 2010 University of Maryland Medical Center (UMMC).

Bladder exstrophy, more properly, the exstrophy-epispadias complex is a congenital anomality in which part of the bladder is present outside the body. It is rare, occurring once every 40,000-50,000 live births with a 2:1 male:female ratio. The diagnosis involves a spectrum of anomalies of the lower abdominal wall, bladder, anterior bony pelvis, and external genitalia. It occurs due to failure of the abdominal wall to close during fetal development and results in protrusion of the posterior bladder wall through the lower abdominal wall.

Treatment is with surgical correction of the defect, but patients can still have long term issues with urinary tract infections and sexual dysfunction. 


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Congenital adrenal hyperplasia (CAH) is a form of adrenal insufficiency in which the enzyme that produces two important adrenal steroid hormones, cortisol and aldosterone, is deficient. Because cortisol production is impeded, the adrenal gland instead overproduces androgens (male steroid hormones). Females with CAH are born with an enlarged clitoris and normal internal reproductive tract structures. Males have normal genitals at birth. CAH causes abnormal growth for both sexes; patients will be tall as children and short as adults. Females develop male characteristics, and males experience premature sexual development.

In its most severe form, called salt-wasting CAH, a life-threatening adrenal crisis can occur if the disorder is untreated. Adrenal crisis can cause dehydration, shock, and death within 14 days of birth. There is also a mild form of CAH that occurs later in childhood or young adult life in which patients have partial enzyme deficiency.

CAH, a genetic disorder, is the most common adrenal gland disorder in infants and children, occurring in one in 10,000 total births worldwide. It affects both females and males. It is also called adrenogenital syndrome.

— Jennifer Sisk

Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. There are three primary types of CM. The most common is Type I, which may not cause symptoms and is often found by accident during an examination for another condition. Type II (also called Arnold-Chiari malformation) is usually accompanied by a myelomeningocele-a form of spina bifida that occurs when the spinal canal and backbone do not close before birth, causing the spinal cord to protrude through an opening in the back. This can cause partial or complete paralysis below the spinal opening. Type III is the most serious form of CM, and causes severe neurological defects. Other conditions sometimes associated with CM include hydrocephalus, syringomyelia, and spinal curvature.

Hydrocephalus[1] (pronounced /ˌhaɪdrɵˈsɛfələs/), also known as "Water on the Brain", is a medical condition. People with hydrocephalus have an abnormal accumulation of cerebrospinal fluid (CSF) in the ventricles, or cavities, of the brain. This may cause increased intracranial pressure inside the skull and progressive enlargement of the head, convulsion, and mental disability. Hydrocephalus can also cause death.


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Hypospadias is a birth defect of the urethra in the male that involves an abnormally placed urinary meatus (opening). Instead of opening at the tip of the glans of the penis, a hypospadic urethra opens anywhere along a line (the urethral groove) running from the tip along the underside (ventral aspect) of the shaft to the junction of the penis and scrotum or perineum. A distal hypospadias may be suspected even in an uncircumcised boy from an abnormally formed foreskin and downward tilt of the glans.

The urethral meatus opens on the glans penis in about 50–75% of cases; these are categorized as first degree hypospadias. Second degree (when the urethra opens on the shaft), and third degree (when the urethra opens on the perineum) occur in up to 20 and 30% of cases respectively. The more severe degrees are more likely to be associated with chordee, in which the phallus is incompletely separated from the perineum or is still tethered downwards by connective tissue, or with undescended testes (cryptorchidism).

An imperforate anus or anal atresia is a birth defect in which the rectum is malformed. Its cause is unknown.


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Myelomeningocele (also called meningomyelocele) is a complex congenital spinal anomaly that causes varying degrees of spinal cord malformation, or myelodysplasia. It is commonly referred to as spina bifida and is classified as a defect of the neural tube (ie, the embryonic structure that develops into the spinal cord and brain). Patients with myelomeningocele present with a spectrum of impairments, but the primary functional deficits are lower limb paralysis and sensory loss, bladder and bowel dysfunction, and cognitive dysfunction.1 Medical, surgical, and rehabilitation issues arise in the patient with myelomeningocele from birth through adulthood.2 (See image below and Image 1.) 


--------http://emedicine.medscape.com/article/311113-overview

Although the disease is very rare, retinoblastoma (RB) is the most common eye tumor in children, and the third most common cancer overall affecting children. Retinoblastoma is a disease that causes the growth of malignant tumors in the retinal cell layer of the eye. The frequency that retinoblastoma occurs has increased over the past 60 years. It now occurs in 1 out of every 15,000 live biths. Two hundred fifty to 350 new cases are diagnosed each year in the US with over 90 percent of cases presenting before the age of 5 years. Untreated, retinoblastoma is almost always fatal; therefore, early diagnosis and treatment is critical in saving lives and preserving visual function.

The treatment of retinoblastoma depends upon whether or not one or both eyes are involved and the extent of tumor. Although removing the eye (enucleation) remains a frequent treatment for retinoblastoma, conservative strategies are being increasingly employed. With earlier detection and improved treatment modalities, the prognosis for vision and life in patients with retinoblastoma has improved significantly in the last twenty years. 

Retinoblastoma is a childhood disease. In general, most new cases of retinoblastoma are diagnosed before the age of 5. Children with retinoblastoma in both eyes are generally diagnosed at a younger age (mean = 13 to 15 months) than children with unilateral disease (mean = 24 months). The overall average age at diagnosis is 18 months. There is no known sex or racial predilection. Approximately 60 percent of cases are only in one eye when first diagnosed, unfortunately about 40 percent of cases present in both eyes.

Retinoblastoma can be either hereditary or non-hereditary. It is hereditary in 30 to 40 percent of patients. Thus, all children in a family may be at risk. Overall, only six percent of newly diagnosed retinoblastoma patients have a positive family history for the disease. Of the patients with hereditary disease, 25 percent have a positive family history. The remaining 75 percent of hereditary cases are caused by new mutations or by inheritance FROM a parent who carries the gene, but does not have any symptoms. Retinoblastoma does not develop in approximately ten percent of patients who carry the heritable mutation. 

Hereditary retinoblastomas usually occur at a younger age and are more likely bilateral and multicentric. In addition, the patient has a higher risk of developing tumors in other parts of the body. It has been reported that patients with bilateral retinoblastoma have approximately a 5 percent chance of developing another cancer during the first 10 years of follow-up, 18 percent within the first 20 years, and 26 percent within the first 30 years. The average time between presentation with retinoblastoma and the appearance of a second cancer is between 10.4 and 13 years. The most common non-ocular cancer is osteogenic sarcoma, other tumors such as rhabdomyosarcoma, chondrosarcoma, spindle cell sarcoma, neuroblastoma, glioma, leukemia, sebaceous cell carcinoma, squamous cell carcinoma, and malignant melanoma have also been reported. 




Peter K. Kaiser, MD
Ingrid U. Scott, MD
Joan M. O'Brien, MD
Timothy G. Murray, MD
Bascom Palmer Eye Institute, University of Miami School of Medicine