Congenital_adrenal

WHAT IS CONGENITAL ADRENAL HYPERPLASIA (CAH)?

Congenital Adrenal Hyperplasia (CAH) is a family of inherited disorders affecting the adrenal gland. Over 90% of those diagnosed with CAH are affected by 21-hydroxylase deficiency. Inherited in severe, moderate and mild forms, the major types of CAH are:

Frequency

The genetic frequency of Classical CAH is approximately 1 in 10-15,000 births. NCAH affects 1 in 100 to 1 in 1000 in the general population, depending upon the ethnic composition of a given community, since its frequency varies in different ethnic groups. For example, it affects one in 27 Ashkenazi Jews, one in 40 Hispanics, one in 53 Croatians, and one in 300 Italians.

Inheritance

CAH affects males and females in equal numbers. For a child to be born with any form of CAH, both parents must carry a gene for the disorder.

Treatment

All forms of CAH are managed through oral medication that regulates hormone levels and replaces hormones not made by the body

Long Term Effects

If not detected or treated, Classical CAH may lead to adrenal crisis and death within a few weeks of life. Non-classical CAH can result in long term quality life issues, as well as growth problems and early puberty in childhood. However, despite the fact that there is no cure for CAH at this time; if treated properly, those affected by CAH can expect to live normal lives.

Classical CAH – The severe form of CAH or Classical CAH can result in life-threatening imbalances in salt and hormone levels. If undetected at birth, Classical CAH can lead to adrenal crisis and death. Frequently, newborn babies show no outward signs of the disorder and are sent home only to present a few weeks later for urgent medical attention at a time when they are beyond resuscitation. Classical CAH also is the most common cause of urogenital birth defects in affected females.

Non-Classical CAH – The mild form of CAH may cause symptoms at anytime from infancy through adulthood. While each individual presents differently, common symptoms include: premature development of body hair, body odor, rapid growth spurt, but ultimately short stature as adult, early puberty, severe acne, anxiety, depression, mood swings, migraines and infertility.

Late Onset Congenital Adrenal Hyperplasia (CAH): or non-classic congenital adrenal hyperplasia, is a form of CAH in which symptoms can vary widely and appear anywhere between infancy and late adolescence. Because the symptoms can be mild or be confused with the symptoms of other disorders, it may not be diagnosed until a person is well into adulthood, if it all. To make things even more confusing, symptoms can come and go throughout one's life.

The basics behind late onset CAH: Because of an enzyme deficiency, cortisol production is limited, causing the adrenals to overcompensate and make too many androgens (e.g. testosterone, DHEA). If a child has precocious puberty symptoms, advanced bone growth, or extreme muscle development, he or she is more apt to get diagnosed. Fairly often, however, it goes undiagnosed. This is because the physical symptoms in males are not as obvious since higher testosterone causes less differences in men, and a lot of doctors don't think to check for late onset CAH when a woman complains of acne, menstrual disorders, and excess hair growth, etc. Also, both sexes can suffer from anxiety or neurological disorders caused by the lack of enough cortisol (which deals with stress) and excess androgens. The most common cause of both CAH and late onset CAH is a 21-hydroxylase deficiency. However, these disorders can also be caused by a deficiency of 11 beta-hydroxylase, 17 alpha-hydroxylase, 3 beta-hydroxysteroid dehydrogenase, or 20-22 demolase.

Gender reversal in 46XX congenital virilizing adrenal hyperplasia:

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We present this study simply to help dispel the myth that 46-XX CAH individuals are necessarily female-identified. Since the child usually does not have any choice, we have few studies of how adjusted 46-XX CAH individuals raised a male are, since most are forcefully raised as girls and those raised as boys are usually excluded from the studies.

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Gender reversal in 46XX congenital virilizing adrenal hyperplasia.

Sripathi V, Ahmed S, Sakati N, al-Ashwal A.

Department of Surgery, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

OBJECTIVE: To review the results of gender reversal in six patients with 46XX congenital virilizing adrenal hyperplasia (CVAH). PATIENTS AND METHODS: Fifty-one patients with 46XX CVAH were seen in an 8 year period; 45 were managed by conventional feminizing genitoplasty, but six underwent gender reversal and were managed as males. The clinical decision for gender reversal was made after appropriate counselling and was based primarily on parental choice, this being influenced significantly by a delayed diagnosis in four patients. Surgical management consisted of gonadectomy, excision of Mullerian structures and staged hypospadias repair/ chordee correction in four patients, and circumcision in two completely masculinized children. RESULTS: All six boys are well adjusted to their gender of rearing, with ages ranging from 3 years to 16.5 years (mean 8.5) at the time of review. Two children have normal penises and four have a satisfactory result after two-stage repair of hypospadias/chordee. CONCLUSION: Most patients with 46XX CVAH are preferably raised as females and require a feminizing genitoplasty. However, the clinical decision may be influenced by many factors, including delay in diagnosis, social bias and the premium on male rearing in certain communities. When male rearing is chosen, early gonadectomy and excision of Mullerian structures, together with staged hypospadias repair, gives satisfactory results.