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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Summary The issues to be resolved in coming years will be reduction of fetal and neonatal morbidities and mortality associated with CAH by improved diagnostic methods as discussed above.

Congenital Adrenal Hyperplasia

Similar articles in PubMed. J Pediatr Endocrinol Metab Adults may be treated with the longer-acting dexamethasone or prednisone, alone or in combination with hydrocortisone.

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.

One hundred years of hyperplasia-bejm adrenal hyperplasia in Sweden: A number of approaches to prenatal identification of affected fetuses have been used. Newborn screening for congenital adrenal hyperplasia: Rather, genotyping is most often performed when the hormonal diagnosis is in question or when genetic counseling is indicated 6. Prenatal treatment of the fetus via dexamethasone administration to the pregnant mother is potentially fraught with unknown long-term risks based on both human and animal studies 9.


Cell-free fetal DNA in maternal blood: J Invest Dermatol ;66 5: Glenn J, Boyce W Adrenogenitalism with testicular adrenal rests simulating hyperplasiz-nejm cell tumor. The gene conhenital the enzyme hydroxylase, CYP21A2is a microsomal cytochrome P located on the short arm of chromosome 6 [89] in the human lymphocyte antigen HLA complex [90]. In those with advanced body maturation at the initial presentation, such as in simple virilizing males, the exposure to elevated androgens followed by the suddenly decreased androgen levels after initiation of glucocorticoid treatment hyperplasla-nejm cause an arrenal activation of the hypothalamic-pituitary-gonadal axis.

These tumors have been reported to be ACTH dependent and to regress following adequate steroid therapy [40, 41, 42, 43, 44]. Genotyping for screening purposes so far has not been deemed cost-effective. Normal genitalia with mild to moderate hyperandrogenism postnatally. Approach to the patient: Close genetic linkage between HLA and congenital adrenal hyperplasia hydroxylase deficiency.

J Clin Endocrinol Metab ;76 4: Mechanism of StARs regulation of mitochondrial cholesterol import. At present, the diagnosis is most often made by immunoassays for hydroxyprogesterone. Degrees of genital virilization are classified into five Prader stage [15] see Figure 2. Optimal corticosteroid therapy is determined by adequate suppression of adrenal hormones balanced against normal physiological parameters.


In the most severe form, males with congenital lipoid hyperplasia are born with female-appearing external genitalia.

Prenatal androgen exposure in females affected with the classic forms of 21OHD CAH not only has a masculinizing effect on the development of hyperplsaia-nejm external genitalia, but also on childhood brain and behavior. The Endocrine Society and other medical groups have deemed this practice experimental 6.

Different degrees of virilization according to the scale developed by Prader [15].

Ann NY Acad Sci. J Psycho Obst Gyn A few patients who were extremely difficult to control with medical therapy alone showed improvement in their symptoms xongenital bilateral adrenalectomy [, ]. Stocco D, Clark B The role of the steroidogenic acute regulatory protein in steroidogenesis.

Congenital Adrenal Hyperplasia

In such instances, the supernatant is used for hormonal measurement and the cells are cultured to obtain a genotype through DNA analysis. Rocha hyperplasia-neim al in showed that CAG repeats in the androgen receptor has a great influence on variability in virilization of external genitalia of CAH women [].

In those who are inadequately treated, advanced epiphyseal development can lead to central precocious puberty.