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.
|Country:||Moldova, Republic of|
|Published (Last):||25 June 2010|
|PDF File Size:||1.33 Mb|
|ePub File Size:||4.66 Mb|
|Price:||Free* [*Free Regsitration Required]|
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 hyperplazia-nejm early epiphyseal closure and likely short stature. Approach to the patient: This leads to an accumulation of hydroxyprogesterone OHPa precursor adjacent of the hydroxylation step.
Cytochrome P oxioreductase deficiency is another rare form of CAH that is caused by a mutation on 7q J Clin Endocrinol Metab 96 6: The mapping of hydroxylase genes adjacent to complement component C4 congenitaal in HLA, the major histocompatibility complex in man.
Unlike the common non-classical form of 21OHD, this form is very rare. 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 adenal practices.
Congenital Adrenal Hyperplasia
Comprehensive genetic analysis of unrelated families with congenital adrenal hyperplasia due to hydroxylase deficiency.
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. The effects of cortisone on sexual and conhenital development, with an hypothesis concerning the mechanism of feminization.
An inadequate vaginal introitus can affect up to a third of classical CAH adult females. The corticotropin stimulation test is crucial in establishing hormonal diagnosis of non-classical form of the disease since early-morning values of OHP may not be sufficiently elevated to allow accurate diagnosis.
Congenital Adrenal Hyperplasia
Prader A, Gurtner HP The syndrome of male pseudohermaphrodism in congenital adrenocortical hyperplasia without overproduction of androgens adrenal male pseudohermaphrodism. J Clin Endocirnol Metab adrena If the fetus is later determined to be a male upon karyotype or an unaffected female upon DNA analysis, treatment is discontinued.
The goal of corticosteroid therapy is to give the lowest dose required for optimal control. Am J Hum Genet.
Prenatal androgen exposure is related to a decrease in self-reported femininity in dose response manner in adulthood. 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.
Alan ParsaM. Males may have small testes compared to the phallus, which results from suppression of the hypothalamic-pituitary-gonadal axis from adrenal androgens.
Congenital adrenal hyperplasia.
Short stature occurs even in patients with good hormonal adrenal control. Hum Mol Genet 5: 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. Aldosterone production is low secondary to low serum potassium and low plasma rennin . It has further been estimated that the cost-benefit ratio for screening is comparable to that of other inborn errors of metabolism for which screening has been mandated 45.
Affected males who are not detected in a newborn screening program are at high risk for a salt-wasting adrenal crisis because their normal male genitalia do not alert medical professionals to their condition.
Congenital Adrenal Hyperplasia – Endotext – NCBI Bookshelf
Our group has performed prenatal diagnosis in over pregnancies at risk for 21OHD, and 59 affected female fetuses have been treated to term . CAH results from deficiency in any one of these enzymes. Kuhnle U, Land M, Ulick S Evidence for the secretion of an antimineralocorticoid in congenital adrenal hyperplsaia-nejm.
Patients with the StAR protein deficiency lipoid form of CAH classically have severe adrenal insufficiency with mineralocorticoid deficiency and salt wasting; they require both glucocorticoid and mineralocorticoid replacement.
J Steroid Biochem Mol Biol An update of congenital adrenal hyperplasia.
Affected adult females adrrenal more likely to have gender dysphoria, and experience less heterosexual interest and reduced satisfaction with the assignment to the female sex.