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.
|Published (Last):||13 April 2011|
|PDF File Size:||1.78 Mb|
|ePub File Size:||6.48 Mb|
|Price:||Free* [*Free Regsitration Required]|
In general, all forms of CAH are transmitted in autosomal recessive mode of inheritance as a monogenic disorder.
Glucocorticoid replacement has been an effective treatment for CAH for over 50 years and remains its primary therapy; however, the management of these patients presents a challenge because inadequate treatment as well as oversuppression can both cause complications. Mechanism of StARs regulation of mitochondrial cholesterol import. Cold Spring Harb Perspect Med. Auchus RJ, Arlt W: Data hypegplasia-nejm close to 6. Potassium depletion develops concomitantly with sodium retention, but hypokalemia is variable.
Turn recording back on. The adrenal gland secretions suggest that the adrenal acts as three separate glands: In patients with salt-wasting 21OHD, signs of hyperandrogenism in children affected with CAH include early onset of facial, axillary, and pubic hair, adult body odor, and rapid somatic growth and bone age advancement, leading to short stature in adulthood.
Congenital adrenal hyperplasia.
This demonstrates that the zona glomerulosa and the zona fasciculata function as two physiologically, and likely genetically, separate glands. The analogy of all other enzyme deficiencies in terms of precursor retention and congennital deficiencies are shown in Table 1. Luetscher JA Studies of aldosterone in relation to water and electrolyte balance in man.
Simple-virilizing hydroxylase deficiency The salient features of classical simple virilizing 21OHD are prenatal virilization and progressive postnatal masculinization with rapid somatic growth and advanced epiphyseal maturation leading to early epiphyseal closure and likely short stature. A simplified algorithm of management of potentially affected pregnancies contenital shown in Figure 5. Preimplantation genetic diagnosis at 20 years.
Clinical, genetic and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein StAR. If the fetus is later determined to be a male upon karyotype or an unaffected female upon DNA analysis, treatment is discontinued. Congenital lipoid adrenal hyperplasia is an extremely rare and severe form adgenal CAH which is caused by mutations in the steroidogenic acute regulatory protein StAR.
Fertility and pregnancy outcome in women with congenital hyperplasi-nejm hyperplasia due to hydroxylase deficiency. The Endocrine Society and other medical groups have deemed this practice experimental 6.
Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: The salient features of classical simple virilizing 21OHD are prenatal virilization and progressive postnatal masculinization with rapid somatic growth and advanced epiphyseal maturation leading to early epiphyseal closure and likely short stature.
Internal genitalia In contrast to the virilization of the external genitalia, internal female genitalia, the uterus, fallopian tubes and ovaries, develop normally.
All steroid products low. Fetal DNA has been extracted and enriched with high accuracy and yield in fetal Rh factor identification , aneuploidy and monogenic disorders such as thalassemia and cystic fibrosis . Journal List FRes v. Congenital lipoid adrenal hyperplasia StAR deficiency Congenital lipoid adrenal hyperplasia is an extremely rare and severe form of CAH which is caused by mutations in the steroidogenic acute regulatory protein StAR. Polycystic ovarian syndrome may also be seen as a secondary complication in these patients.
As indicated in Table 1each form of CAH has its own unique hormonal profile, consisting of elevated levels of precursors and elevated or diminished levels of adrenal steroid products.
Oksana LekarevDO. Since avrenal external genitalia are not ambiguous in newborn males, hyperpigmentation, a large phallus with small testis may be the only clues suggesting increased ACTH secretion and cortisol deficiency.
Sex steroids should be added at a developmentally appropriate time to allow patients to resemble their peers.
Clear Turn Off Turn On. Studies suggest that excess adrenal androgens aromatized to estrogens inhibit the pubertal pattern of gonadotropin secretion by the hypothalamic-pituitary axis.
Adult height in patients with congenital adrenal hyperplasia: Treatment was highly effective in preventing genital ambiguity when the mother was compliant until term. Proper treatment with glucocorticoid reduces stimulation of the hyperpladia-nejm pathway, thus preventing further virilization and allowing normal growth and development.
Congenital Adrenal Hyperplasia – Endotext – NCBI Bookshelf
Rocha et al in showed that CAG repeats in the androgen receptor has a great influence on variability in virilization of external genitalia of CAH women . Impaired cortisol synthesis leads to chronic elevations of ACTH via the negative feedback system, causing overstimulation of the adrenal cortex and resulting in hyperplasia and oversecretion of the precursors to the enzymatic defect. It is important to note, however, that the 10 most common mutations observed in CYP21A2 cause variable phenotype effects and are not always concordant with genotype.
Genotyping for screening purposes so far has not been deemed cost-effective. A common scenario is that the family with a proband affected with CAH is seeking prenatal diagnosis for a fetus. University of Illinois Press, Urbana, p Plasma renin activity is useful as a therapeutic index as well.
Long Range Outcome of Prenatal Treatment. The salt wasting is presumed to result from inadequate secretion of salt-retaining steroids, primarily aldosterone.
Congenital adrenal hyperplasia.
The primary goal of treating classic CAH is to reduce the excess adrenal androgen production and replace the deficient hormones, namely cortisol and aldosterone. It is therefore crucial to educate parents of young children, and re-educate patients at the transition to adult care, about stress dosing.
Presence of fetal DNA in maternal plasma and serum. Testicular adrenal rest tumor can lead to end stage damage of testicular parenchyma, most probably as a result of longstanding obstruction of the seminiferous tubules . Normal conggenital with mild to moderate hyperandrogenism postnatally. It occurs in 1 of everylive births in the general population  and is more common in some populations of North African origin .
This probably arises from hyperplastic tissue areas and does not require surgical intervention . J Clin Invest Such testing is the basis of the newborn-screening program developed to identify classically affected patients who are at risk for salt wasting crisis .
In adrehal and adults, signs of hyperandrogenism may include male-pattern alopecia temporal balding and acne.