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17-alpha-Hydroxylase Deficiency: A case report with clinical and molecular analysis

Li DGYE-2009-0126.r1 [ID 463715] 3 PAG

BACKGROUND: 17α-Hydroxylase Deficiency (17OHD) is a rare disease of congenital adrenal hyperplasia. It is characterized by hypertension, hypokalemia, sexual infantilism. Deficiency of P450c17 enzyme is caused by mutation of the CYP17 gene. more

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5) J Clin Endocrinol Metab. 2010 Jan 15.

Bidet M, Bellanné-Chantelot C, Galand-Portier MB, Golmard JL, Tardy V, Morel Y, Clauin S, Coussieu C, Boudou P, Mowzowicz I, Bachelot A, Touraine P, Kuttenn F.

Objective: In contrast to subfertility often reported in women suffering from the classical form of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, fertility in nonclassical CAH (NC-CAH) has been rarely studied. Our objective was to evaluate fertility in NC-CAH women. Material and Methods: We studied 190 NC-CAH women (161 probands + 29 first degree relatives). Only 20 probands had consulted for infertility (12%), either alone or associated with hirsutism or menstrual cycle disorders. The diagnosis was established on post-ACTH 17-hydroxyprogesterone 10 ng/ml or greater and further characterized by CYP21A2 gene analysis. Results: Ninety-five of the 190 women wanted pregnancy (aged 26.7 +/- 8.9 yr); 187 pregnancies occurred in 85 women, which resulted in 141 births in 82 of them. Ninety-nine pregnancies (52.9%) occurred before the diagnosis of NC-CAH (96 spontaneously and three with ovulation inducers) whereas 98 occurred after diagnosis (11 spontaneously and 77 with hydrocortisone treatment); 83% of pregnancies were obtained within 1 yr. The rate of miscarriages was 6.5% for pregnancies obtained with glucocorticoid treatment vs. 26.3% without. Two of the 141 infants (1.5%) were born with classical CAH. Conclusion: Subfertility is mild in NC-CAH. However, the rate of miscarriages is lower in pregnancies occurring with glucocorticoid treatment and argues for treating NC-CAH women wanting pregnancy. In addition, considering the high rate of heterozygotes for CYP21A2 mutations in the general population, it is essential to genotype the partner of patients with a severe mutation to predict the risk of classical CAH and offer genetic counseling.

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An update to 21-hydroxylase deficient congenital adrenal hyperplasia

Trakakis, Eftihios; Basios, George; trompoukis, pantelis; labos, george; gramatikakis, ioannis; kassanos, demetrios

Abstract: Congenital adrenal hyperplasia (CAH) due to deficiency of the enzyme 21-hydroxylase (21-OH), is distinguished in classical (C-CAH) and non-classical form (NC-CAH) and it is also one of the most common autosomal recessive inherited disorders in humans. The prevalence of C-CAH is between 1:10000 and 1:15000 among the live neonates of North America and Europe while the NC-CAH occurs in approximately 0.2 percent of the general white population. The highest incidence of CAH (1: 282 and 1: 2141, respectively) has been evaluated in Yupik Eskimos in Alaska and in the populations of the island La Reunion (France) while the lower was detected in New Zealand newborns (0.3%). Nowadays it has been established that except for the adrenal cortex in CAH cases, the adrenal medulla was also affected. In human 21-OH deficient adrenal gland it has been discovered that not only the chromaffin cells formed extensive neurites, expanding between adrenocortical cells, but also that the adrenal androgens promote outgrowth, whereas glucocorticoids preserve neuroendocrine cells. It seems that normal cortisol secretion by the adrenal cortex is necessary for adrenomedullary organogenesis. The synthesis of 21-OH is controlled by the active CYP21A2 gene located at a distance of 30kb from a highly homologous pseudogene designated CYP21A1P

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3) Mol Endocrinol. 2009 Dec 1.

Bonéy-Montoya J, Ziegler YS, Curtis CD, Montoya JA, Nardulli AM.

Estrogen receptor alpha (ERalpha) binds to specific target DNA sequences, estrogen response elements (EREs), to regulate estrogen-responsive gene expression. The progesterone receptor (PR) gene has been used extensively as a marker of estrogen responsiveness. Although we previously identified cis elements within 1 kb of the PR-B more

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Genotyping of a Chinese family with 46,XX and 46,XY 17-Hydroxylase Deficiency.

Qinjie Tian, Fengxia Yao, Guihua Sha, Shangzhi Huang, Hung Tseng , Adolf E. Schindler

Background: 17-Hydroxylase deficiency is a rare form of congenital adrenal hyperplasia caused by CYP17A1 gene mutations.

Method: A 46,XY and a 46,XX Chinese patients with 17-hydroxylase deficiency in a family and their four generations family members were genotyped by PCR-sequencing method.

Results: Two CYP17 gene mutations were identified from these patients. Among them, IVS1-1G>A was a novel splicing mutation which disrupted the acceptor signal of exon 2 and might create a new exon after exon 1. The indel mutation of TAC329AA was a one-base deletion mutation and one-base change at codon 329 in exon 6. more

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