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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Late treatment as well as no treatment resulted in much greater virilization, and the average Prader score was 3. This is an congeital 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.
Congenital uyperplasia-nejm hyperplasia CAH refers to a group of disorders that arise from defective steroidogenesis. Optimization of growth during childhood The primary goal of treating classic CAH is to reduce the excess adrenal androgen production and replace the deficient hormones, namely cortisol and aldosterone. Genotyping of the CYP21A2 gene revealing severe mutations maybe helpful is suspecting salt wasting in the male despite normal male genitalia.
Excessive weight gain was lost after birth.
I believe that I have an appropriate level of expertise to confirm that it is of an acceptable scientific standard. Prenatal treatment of 21OHD has proven to be successful in significantly reducing genital masculanization in affected females.
Further, there was no observed increase in fetal abnormalities or fetal death . Some uncertainties and concerns have been expressed about the long-term safety of prenatal diagnosis and treatment [, ].
In addition, hormonal precursors of the OH enzyme may act as antagonists to mineralocorticoid action in the sodium-conserving mechanism of the immature newborn renal tubule [46, 47, 48]. Mineralocorticoid deficiency is a feature of the most severe form of the disease called salt wasting CAH.
Normal genitalia with mild to moderate hyperandrogenism postnatally. Seckl JR Prenatal glucocorticoids and long-term programming.
The development of Hyperplasi-nejm 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. Section on Endocrinology and Committee on Genetics. Adequate glucocorticoid therapy is an important variable with respect to fertility outcome. Measurements of plasma renin and aldosterone are used to monitor the efficacy of mineralocorticoid therapy in all patients with the salt wasting form of the disease .
Hormonal diagnosis is made by the unique hormonal profile, consisting of elevated levels of precursors and elevated or diminished levels of adrenal steroid products. The physician is obliged to make the diagnosis as quickly as possible to initiate therapy.
Guillemin R, Schally A Recent advances in the chemistry of neuroendocrine mediators originating in the central nervous system. No differences were found regarding gestational diabetes or hypertension. Diets of older children and adults contain more than enough sodium, obviating the need for adrejal salt.
Congenital Adrenal Hyperplasia
Newborn screening for congenital adrenal hyperplasia: The increased adrenal androgens, hyerplasia-nejm are converted to estrogens, may counteract the detrimental effects of glucocorticoids on bone mass.
Menarche in females may be normal or delayed, and secondary amenorrhea is a frequent occurrence. Retrospective follow-up study of treated pregnancies in families.
Despite exposure to prenatal androgens, women with CAH most often have female core gender identity and behavior 19 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.
Symptoms in adult males with NC-CAH may be limited to short stature or oligozoospermia and impaired fertility.
A study is currently underway to examine a potential mechanism by which certain CAH patients are protected against glucocorticoid induced bone loss. Mechanisms of glucocorticoid action in bone: J Pediatr Endocrinol Metab Decreased androgens and estrogens.
Congenital Adrenal Hyperplasia – Endotext – NCBI Bookshelf
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. Cytochrome P oxioreductase deficiency is another rare form of CAH that is caused by a mutation on 7q Common mutations in CYP21A2 gene and their related phenotypes.
The main themes to be discussed will be prenatal and neonatal diagnosis, optimization of growth during childhood, and quality of life QOLincluding reproductive health in adult life. A few patients who were extremely difficult to control with medical therapy alone showed improvement in their symptoms after bilateral adrenalectomy [, ].
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. A number of approaches to prenatal identification of affected fetuses have been used. 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 .
Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DHA in maternal plasma. 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 may cause an early activation of the hypothalamic-pituitary-gonadal axis.
Women may present with a variety of symptoms of androgen excess which may be highly variable and organ-specific, including hirsutism, temporal baldness, acne and infertility. Females with concomitant PCOS may benefit from an oral contraceptive, though this treatment would not be appropriate for patients trying to get pregnant. Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency.
More specifically, StAR mediates the acute steroidogenic response by moving cholesterol from the outer to inner mitochondrial membrane the rate-limiting step of steroidogenesisand when this does not occur, cholesterol and cholesterol esters accumulate .
With CAH, as with many chronic illnesses, various factors contribute to these measures.
In a small-sample study of children prenatally treated with dexamethasone, Lajic and her colleagues found no effects on intelligence, handedness, memory encoding, or long-term memory, but short-term treated CAH-unaffected children had hyprplasia-nejm poorer performance than controls on a test of verbal working memory. Hormonal diagnosis is currently only used when molecular diagnosis is unavailable.
J Clin Endocrinol Metab, September95 9: Bone Mineral Density In order to adequately suppress androgen production in patients with CAH, the usual requirement of hydrocortisone is generally higher than the endogenous secretory rate of cortisol.
In the fourteen expectant families studied, each with a child affected with classical CAH proband and parents with at least one mutant CYP21A2 gene, the fetal CAH affection status was correctly deduced using this method from maternal plasma drawn as early as 5 weeks and 6 days.