Medical Progress from The New England Journal of Medicine — Congenital Adrenal Hyperplasia. review article. The new england journal of medicine n engl j med ;8 www. august 21, medical progress. Congenital Adrenal Hyperplasia. Despite impressive advances in treatment and in our understanding of the molecular events that cause congenital adrenal hyperplasia.

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Adults may be treated with the longer-acting dexamethasone or prednisone, alone or in combination with hydrocortisone. Treatment with dexamethasone must begin before the 9th week of gestation, yet chorionic villous sampling can only be done at the th week, with karyotype and DNA results available weeks later.

Congenital adrenal hyperplasia.

On the other hand, poor growth can also occur in patients with 21OHD as a result of excess glucocorticoid treatment. A number of approaches to prenatal identification of affected fetuses have been used. Defects of Adrenal Steroidogenesis.

ACTH stimulates cholesterol cleavage, the rate limiting step of adrenal steroidogenesis. Congenital Adrenal Hyperplasia – Endotext. Such testing is the basis of the newborn-screening program developed to identify classically affected patients who are at risk for salt wasting crisis [].

I have read this submission. However, small testes and aspermia can occur in patients as a result of inadequately controlled disease [35, 36].

InJeffcoate et al first reported a successful prenatal diagnosis of 21OHD, based on elevated levels of ketosteroids and pregnanetriol in the amniotic fluid []. J Pediatr Surg Fertility and pregnancy outcome in women with congenital adrenal hyperplasia adrenwl to hydroxylase deficiency.


Glenn J, Boyce W Adrenogenitalism with testicular adrenal rests simulating interstitial cell tumor. This may explain why older CAH women, particularly those who are post-menopausal, are at higher risk for osteoporosis than younger CAH patients.

Congenital Adrenal Hyperplasia – Endotext – NCBI Bookshelf

Primary amenorrhea or delayed menarche may occur if a woman with classical CAH is untreated, inadequately treated, or over treated with glucocorticoids [23]. Preimplantation genetic diagnosis PGD identifies genetic abnormalities in preimplantation embryos prior to embryo transfer, so only unaffected embryos established from IVF are transferred.

In the most common form 21OHD-CAH, the function of yyperplasia-nejm cytochrome P is deficient, creating a block in P cortisol production pathway. Postnatal effects and growth Deficient postnatal treatment in boys and girls results in continued exposure to excessive androgens, causing progressive penile or clitoral enlargement, the development of premature pubic hair pubarcheaxillary hair, acne, and impaired fertility.

Similar articles in PubMed. Behav Neurosci 1: Optimizing newborn screening for congenital adrenal hyperplasia. Transgender individuals have been reported but are relatively rare Prenatal Diagnosis of 21OHD A number of approaches to prenatal identification of affected fetuses have been used. Structure of the human steroid hydroxylase genes. Although patients with the SV and NC form of CAH can make adequate hyperplasua-nejm, the aldosterone to renin ratio ARR has been found to be lower than normal, though not to the degree seen in the salt-wasting form [].

Glucocorticoid and, if necessary, mineralocorticoid replacement, has been the mainstay of treatment for CAH, but new treatment strategies continue to be developed and studied to improve care.


Compelling data from large cohorts of pregnancies with prenatal diagnosis and treatment of 21OHD CAH prove its efficacy and safety [, ]. The average dose is 0. Prenatal treatment of congenital adrenal hyperplasia: In this context, I will present data and arguments supporting the need for informed treatment of patients across the life span and across primary and specialty care practices.

Appropriate references based on weight and gestational age are therefore in place in many screening programs []. Bilateral adrenalectomy is a radical measure that can be effective in some cases. Females prenatally virilized, normal male genitalia.

Nonetheless, pitfalls do occur in a small percentage of the patients undergoing prenatal diagnosis utilizing genetic diagnosis, such as conenital mutations [], allele drop outs [], or maternal DNA contamination. Not only does prenatal treatment effectively minimize the degree of female genital masculanization in the patients; it also lessens the high-level androgen exposure of the brain during differentiation.

This leads hyperplasia-bejm an accumulation of hydroxyprogesterone OHPa precursor adjacent of the hydroxylation step. It occurs in 1 of everylive births in the general population [8] and is more common in some populations of North African origin [9].