Sunday 10 October 2010

A 30 years review of congenital adrenal hyperplasia in Northern Ireland

A 30 years review of congenital adrenal hyperplasia in Northern Ireland
Thirty-seven patients (22 female, 15 male) from 30 families presented with CAH over this time period giving an incidence of 1:23,092 live births. Eighteen (49%) were diagnosed shortly after birth (83% virilised females); 13 (35%) presented in the first few weeks of life with adrenal crises (85% male); and 6 (16%) presented with virilisation in later childhood.
In the first 16 years reviewed, 8 (80%) girls had perineal surgery in childhood, compared with 2 (16%) in the second 18 years. Two (9%) women had adrenalectomy. Eleven (58%) of those transferred to adult services have been lost to follow-up.

The "perineal surgery" in such cases would often be clitoridectomy. Amputating the clitoris for being too big. It's likely that the surgery performed in later life, on consenting adults, was likely to be less radical, and more concerned with preserving sensation.

Two had their adrenals removed. This tissue from Intersexed children was often used in early research into birth control pills.

These days, such surgical procedures are reserved for the most severe cases, where there is essentially no benefit from the completely dysfunctional glands. In such cases, the results can be very good. From ADRENALECTOMY FOR CAH Summary Research by Van Wyck and Ritzen:
We believe that these long-term studies document that bilateral adrenalectomy is a safe and efficacious method of managing patients with severe forms of congenital adrenal hyperplasia. It should be considered in patients who have repeatedly escaped from adrenal suppression and who are now suffering from progressive signs of both androgen and glucocorticoid excess.
As a last-ditch procedure when all else fails, there's usually an improvement. Not a good situation, certainly not a cure, but better than not performing the surgery, and often far better. It can make a real difference, when there's been a history of severe problems.

There are certain disadvantages though...
Adrenalectomized patients will require close medical supervision for life since they will remain at risk for serious consequences or death if not given adequate substitution therapy. Prophylactic adrenalectomy of young patients should be limited to academic centers with established research protocols.
Where at least the do good science when experimenting on Intersexed newborns. Which is what "Prophylactic adrenalectomy" is, because at that stage, we can't know whether the symptoms will be mild or severe.

The rules are different for Intersexed people.

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