Nejat Mahdieh1,2, PhD; Bahareh Rabbani1, PhD, and Ali Rabbani*1,3, MD 1. Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran 2. Faculty of Medicine, Ilam University of Medical Sciences, Ilam , Iran 3. Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran 21-hydroxylase deficiency (21-OHD) accounts for the cause of 90-95% of ...

Congenital adrenal hyperplasia (CAH) is the most frequently encountered genetic steroid disorder affecting fertility. Steroid hormones play a crucial role in sexual development and reproductive function; patients with either 21- hydroxylase or 11β-hydroxylase deficiency thus face immense challenges to their fertility. Given the relevance of CAH in reproductive medicine as well as the diagnostic...

Hydrocortisone acetate (HA) is a synthetic corticosteroid and is usually employed in the treatment of classic congenital adrenal hyperplasia (CAH), which is a disorder of the adrenal cortex characterized by cortisol deficiency, with or without aldosterone deficiency, and androgen excess [1]. Because five enzymatic steps are involved in cortisol biosynthesis, there are five distinct CAH syndrome...

CONTEXT Nonclassical congenital adrenal hyperplasia (CAH) owing to steroid 21-hydroxylase deficiency (NC21OHD) is the most frequent of all autosomal recessive genetic diseases, occurring in one in 100 persons in the heterogeneous New York City population. NC21OHD occurs with increased frequency in certain ethnic groups, such as Ashkenazi Jews, in whom one in 27 express the disease. NC21OHD is u...

We have segregated DRI+ individuals into two categories according to whether or not their class II+ cells stimulated T lymphocyte clones specific for or restricted to DR1. In a majority of cases (87%), failure to stimulate was a property of cells having the B14;DR1 haplotype and/or nonclassical 21-hydroxylase deficiency. Absence of clonal proliferation could not be explained by release of an in...

congenital adrenal hyperplasia (cah) is a group of hereditary diseases, which are autosomal recessive. cah occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. in this article, we report a case of cah and schmid metaphyseal dysplasia. our literature review indicated that this report is the first attempt on cyp11b1 a...

in this study 93 hirsute females (ferryman and gallway score > 8) referred to institute of endocrinology & metabolism and office were assessed. baseline testosterone (tes), dehydroepiandrosterane sulfate (dhea-so4). follicular stimulating hormone (fsh). leuteinizing hormone (lh), prolactin (prl), thyroid stimulating hormone (tsh), baseline 17 hydroxyprogesterone (17 ohp) and in some cases acth ...

Congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency (21-OHD) is an inherited autosomal recessive disorder. Its incidence is 1 in 10,000 to 20,000 worldwide. This disease shows phenotypic differences, and it is divided into three forms i.e., the salt wasting (SW), simple virilizing (SV), and nonclassic (NC) forms. The most severe form of SW manifests in the first months of life w...

We report the biochemical hallmarks of tyrosine hydroxylase deficiency with emphasis on reliable diagnostic strategies of four new cases of an inborn error of tyrosine hydroxylase (TH). Three of our patients from different parts of the Netherlands were found homozygous for a mutation in exon 6 (G698A) of the TH gene, and one patient was found compound heterozygous for the same mutation and an a...

Background Dopa-responsive dystonia (DRD) has largely been associated with autosomal dominant mutations in the GCH1 gene leading to GTP cyclohydrolase 1 deficiency. More recently, a deficiency in tyrosine hydroxylase (TH) has been recognized to cause DRD. This is a rare disorder resulting from genetic mutations in the TH gene on chromosome 11. The phenotype ranges from DRD with complete resolut...