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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I believe that I have an appropriate level of expertise to confirm that it is of an acceptable scientific standard. In contrast to 21 hydroxylase deficiency CAH, the disorder is more prevalent in the Middle East and North Africa, where consanguinity is common.
Fertility and fecundity are reduced in both men and women with CAH compared with controls 22 Infertility, Infantile female genitalia. Turn recording back on. In contrast to the virilization of the external genitalia, internal female genitalia, the uterus, fallopian tubes and ovaries, develop normally.
This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. In adolescents and adults, signs of hyperandrogenism may include male-pattern alopecia temporal balding and acne. Preimplantation genetic diagnosis at 20 years. Treatment of CAH is targeted to replace the insufficient adrenal congenihal and to suppress the excess precursors.
Hyperpoasia-nejm newborns in the United States and in many developed countries are screened axrenal hydroxylase deficiency among other disorders diagnosed by obtaining heel-stick blood on filter paper 3.
Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia.
ACTH stimulates cholesterol cleavage, the rate limiting step of adrenal steroidogenesis. Common mutations in CYP21A2 gene and their related phenotypes. Optimal corticosteroid therapy is determined by adequate suppression of adrenal hormones balanced against normal physiological parameters.
Congenital Adrenal Hyperplasia
This leads to an accumulation of hydroxyprogesterone OHPa precursor adjacent of the hydroxylation step. J Clin Endocrinol Metab, ; 99 4: Sippell WG, Muller-Holve W, Dorr HG, Bidlingmaier F, Knorr D Concentrations of aldosterone, corticosterone, deoxycorticosterone, progesterone, hydroxyprogesterone, deoxycortisol, cortisol, and cortisone determined simultaneously in human amniotic fluid throughout gestation. Mutations in the StAR protein have been reported that retain partial protein function, leading to variable phenotype .
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Congenital Adrenal Hyperplasia – Endotext – NCBI Bookshelf
New Engl J Med Because of the scarcity of this data, the role of the parents in sex assignment becomes crucial in all aspects of the decision making process, and should include full discussion of the controversy and all possible therapeutic options for the intersex hyperplasia-njem, particularly early versus delayed surgery.
The development of PCOS in CAH patients is not uncommon and may be related to both prenatal and postnatal excess androgen exposure, which can affect the hypothalamic-pituitary-gonadal axis. Both classical and non-classical hydroxylase deficiency are inherited in a recessive manner as allelic variants. Congenital adrenal hyperplasia Hyperpkasia-nejm refers to a group of disorders that arise from defective steroidogenesis.
A common scenario is that the family with a proband affected with CAH is seeking prenatal diagnosis for a fetus. Published studies of almost pregnancies, 80 of which were prenatally treated until term and 27 who were male and received dexamethasone for a short period of time, the newborns in the dexamethasone treated group did not differ in weight, congenitla or head circumference from untreated, unaffected siblings.
Guo C, Weetman A, Hyperpplasia-nejm R Bone turnover and bone mineral density in patients with congenital adrenal hyperplasia. Menarche in females may be normal or delayed, and secondary amenorrhea is a frequent occurrence. Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia. Thus, emergency and critical care personnel must consider the diagnosis in patients presenting in shock.
A pharmacokinetic and pharmacodynamic study of delayed- and extended-release hydrocortisone Chronocort vs.
Congenital adrenal hyperplasia.
It can be used independently or in conjunction with serum steroid assays to increase accuracy and confidence in making the diagnosis and distinguishing the separate enzymatic forms of the disorder [, ].
Thus, amniocentesis, which is performed later in gestation, results in treatment adrrenal unaffected fetuses for a longer period of time than CVS. Ann N Y Acad Sci.
The aim of surgical repair in females with ambiguous genitalia caused by CAH, when the decision is made by parents or patients themselves, is generally to remove the redundant erectile tissue, preserve the sexually sensitive glans clitoris, and provide a normal hyperplaia-nejm orifice that functions adequately for menstruation, intromission, and delivery.
Published online Aug The conegnital is obliged to make the diagnosis as quickly hyperplasoa-nejm possible to initiate therapy. Current immunoassay methods used in newborn screening programs yield a high false positive rate. Alan ParsaM. While serum cortisol concentration is typically low in patients with the classic form of the disease, it is usually normal in patients with NC 21OHD.
Close genetic linkage between HLA and congenital adrenal hyperplasia hydroxylase deficiency. It has not been customary to supplement conventional glucocorticoid replacement therapy with the administration of salt-retaining steroids in the SV and NC forms adrenql CAH, though there has been some suggestion that adding fludrocortisone to patients with elevated PRA may improve hormonal control of the disease .
This inhibition, via a negative feedback effect, can be reversed by glucocorticoid treatment [19, 20].