Management of adolescents with congenital adrenal hyperplasia

Abstract

The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often affect adherence to medical therapy, and sexual function plays a major part in adolescence and young adulthood. For these reasons, treatment regimen reassessment is indicated during adolescence. Patients with non-classic congenital adrenal hyperplasia require reassessment regarding the need for glucocorticoid drug treatment. No clinical trials have compared various regimens for classic congenital adrenal hyperplasia in adults, thus therapy is individualised and based on the prevention of adverse outcomes. Extensive patient education is key during transition from paediatric care to adult care and should include education of females with classic congenital adrenal hyperplasia regarding their genital anatomy and surgical history. Common issues for these patients include urinary incontinence, vaginal stenosis, clitoral pain, and cosmetic concerns; for males with classic congenital adrenal hyperplasia, common issues include testicular adrenal rest tumours. Transition from paediatric to adult care is most successful when phased over many years. Education of health-care providers on how to successfully transition patients is greatly needed.

Nerve Sparing Ventral Clitoroplasty : A New Treatment for Clitoromegaly

“…Treatment of CAH involves providing replacement of deficient steroid hormones like glucocorticoids (hydrocortisone or prednisolone or dexamethasone) and mineralocorticoids (fludrocortisone). (5) Girls with ambiguous genitalia require reconstructive surgery like clitoroplasty and vaginoplasty. (6) Nerve supply of Clitoris: Clitoris is innervated by both sympathetic (T10 & L1) and parasympathetic (S2, S3, S4) nerves.…”

Importância da prova de Synacthen no diagnóstico diferencial de pubarca precoce

“…No estudo de Torok et al 9 a secreç ão de cortisol aos 60 minutos foi significativamente inferior nos doentes com HCSR-NC (média 12,8 g/dl [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22]) relativamente aos doentes sem HCSR-NC (média 20,5 g/dl [6-73]) (p < 0,0001). Dois terç os dos doentes com HCSR-NC tiveram valores > 12 g/dl e 3 doentes entre 6-9,6 g/dl, o que demonstra que doentes com HCSR--NC podem não ter secreç ão apropriada de cortisol em situaç ões de stress.…”

“…dos doentes com HCSR-NC são portadores de mutaç ões que podem condicionar a forma clássica da doenç a13,14 . Estima-se que o risco de um doente com HCSR-NC ter um filho com HCSR forma clássica é de cerca de 1:240 6,13 ; um estudo francês estimou que esse risco será de 2,5% e que o risco de ter um filho com forma não clássica é de 15% 1 , provavelmente devido a consanguinidade em determinadas populaç ões 6 .…”

Hypo and Hyper

“…Transient adrenal insufficiency in the newborn may also be seen in infants born to steroid-treated mothers. Infants with septooptic dysplasia may present with central adrenal insufficiency [13,14].…”