Keywords "3 beta-hydroxysteroid dehydro...

"3 beta-hydroxysteroid dehydrogenase deficiency"
Bruno Donadille, Muriel Houang, Irène Netchine, Jean-Pierre Siffroi, Sophie Christin-Maitre
Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. The estimated prevalence is less than 1/1,000,000 at birth. It leads to steroidogenesis impairment in both adrenals and gonads. Few data are available concerning adult testicular function in such patients. We had the opportunity to study gonadal axis and testicular function in a 46,XY adult patient, carrying a HSD3B2 mutation. He presented at birth a neonatal salt-wasting syndrome...
March 2018: Endocrine Connections
Karin Panzer, Osayame A Ekhaguere, Benjamin Darbro, Jennifer Cook, Oleg A Shchelochkov
Steroid 3-beta hydroxysteroid dehydrogenase type II (3β-HSD2) deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia (CAH). We report the genetic basis of 3β-HSD2 deficiency arising from uniparental isodisomy (UPD) of chromosome 1. We describe a term undervirilized male whose newborn screen indicated borderline CAH. The patient presented on the 7th day of life in salt-wasting adrenal crisis. Steroid hormone testing revealed a complex pattern suggestive of 3β-HSD deficiency. Chromosomal microarray and single nucleotide polymorphism analysis revealed complete UPD of chromosome 1...
March 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
O Jadot, G Thiry, F Bury
3 beta-hydroxysteroid dehydrogenase deficiency is a disorder of steroid biosynthesis resulting in decreased production of all 3 groups of adrenal steroids. The symptomatology includes congenital adrenal hyperplasia disorders and ambiguous genitalia in 46, XY males. 3beta-HSD deficiency is a rare autosomal recessive genetic disorder. Much heterogeneity exists in the clinical presentation of this disorder.
September 2004: Revue Médicale de Liège
Nuri Kamel, Vedia Tonyukuk, Rifat Emral, Demet Corapçioğlu, Mehmet Baştemir, Sevim Güllü
Late onset congenital adrenal hyperplasia (LO CAH) can be seen in association with polycystic ovary syndrome (PCOS) or idiopathic hirsutism (IH). The study aimed to find out the prevalence of LO CAH in Central Anatolia among hirsute women. Sixty-three patients with hirsutism were evaluated to determine the frequency of LO CAH by comparing them with their age and body mass index matched 28 healthy controls. Of those 63 hirsute women, 43 were diagnosed as PCOS, and 20 were diagnosed as IH. Following basal hormonal evaluation, all subjects underwent ACTH stimulation test and ACTH stimulated 17-hydroxyprogesterone (17-OH P), 11-desoxycortisol (11-DOC), cortisol (F), and dehydroepiandrosterone sulfate (DHEA-S) levels were determined in all subjects...
December 2003: Endocrine Journal
No abstract text is available yet for this article.
March 1965: Acta Endocrinologica
Michael P Caulfield, Thomas Lynn, Michael E Gottschalk, Kenneth L Jones, Norman F Taylor, Ewa M Malunowicz, Cedric H L Shackleton, Richard E Reitz, Delbert A Fisher
Definitive neonatal diagnosis of congenital adrenal hyperplasia (CAH) is frequently complicated by normal 17-hydroxyprogesterone levels in 21-hydroxylase-deficient patients, residual maternal steroids, and other interfering substances in neonatal blood. In an effort to improve the diagnosis, we developed a gas chromatography/mass spectrometry method for simultaneous measurement of 15 urinary steroid metabolites as early as the first day of life. Furthermore, we developed 11 precursor/product ratios that diagnose and clearly differentiate the four enzymatic deficiencies that cause CAH...
August 2002: Journal of Clinical Endocrinology and Metabolism
L G Freitas Filho, J Carnevale, C E Melo, M Laks, E G Miranda
PURPOSE: We present a modified technique of sigmoid neovaginal construction in children that protects the sigmoid pedicle from traction, allows easy adjustment of caliber and reorients the mucosal fold in a longitudinal direction. MATERIALS AND METHODS: From 1997 to 2000, 10 genetically male (46 XY) children 1 to 13 years old underwent construction of a neovagina with sigmoid, incorporating the Yang-Monti concept of intestinal reconfiguration. The diagnosis was androgen insensitivity in 7 patients, congenital adrenal hyperplasia in 2 due to 17 alpha-hydroxylase deficiency and 3 beta-hydroxysteroid dehydrogenase deficiency, respectively, and bladder exstrophy in 1 who required sex reassignment...
October 2001: Journal of Urology
S Pang
Recent advances in the genetics of the family of 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) enzymes have helped in the understanding of the molecular basis and hormonal phenotype of bona fide 3 beta-HSD deficiency congenital adrenal hyperplasia (CAH). This article revisits the clinical spectra of 3 beta-HSD deficiency disorders, pathophysiology of 3 beta-HSD deficiency CAH, and updates genotype findings and diagnostic hormonal criteria for bona fide classic and nonclassic 3 beta-HSD deficiency CAH. The delta-5 steroid abnormality for the nonclassic 3 beta-HSD deficiency CAH, proven by genotype study, is substantially greater than the hormonal criteria for the disorder published before the advent of molecular information on the gene encoding adrenals and gonads in humans...
March 2001: Endocrinology and Metabolism Clinics of North America
P R Garner
The congenital adrenal hyperplasias (CAH) are a group of inherited enzymatic defects of adrenal steroid biosynthesis. Deficiencies of each enzyme required in the steroid biosynthesis pathway are known, and these deficiencies are all inherited as autosomal recessive disorders. During pregnancy, maternal and fetal problems are confined to women who have 21-hydroxylase deficiency (P450c21 deficiency), 11-hydroxylase deficiency (P450c11 deficiency), and 3 beta-hydroxysteroid dehydrogenase deficiency (3 beta HSD deficiency), because other adrenal enzyme deficiencies are not compatible with fertility...
December 1998: Seminars in Perinatology
S Pang
A clinical spectrum, varying from prenatal onset to postnatal onset of symptoms, exists in all hyperandrogenic forms of congenital adrenal hyperplasia (CAH). Postnatal onset hyperandrogenic symptoms such as premature pubarche, clitoromegaly, hirsutism, menstrual disorders and infertility are well known manifestations of CAH due to 21-hydroxylase deficiency, 3 beta-hydroxysteroid dehydrogenase deficiency or 11 beta-hydroxylase deficiency. These hyperandrogenic symptoms of CAH are clinically indistinguishable from other causes of hyperandrogenism...
June 1997: Baillière's Clinical Obstetrics and Gynaecology
M Yoshimoto, T Kawaguchi, R Mori, E Kinoshita, T Baba, T Tajima, K Fujieda, T Suzuki, H Sasano
Males with classical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency manifest appropriate secondary sexual maturation with an elevation in serum testosterone levels at pubertal age. To define the origin of serum testosterone, we evaluated a male patient with classical 3 beta-HSD who showed pubertal development. High values of testosterone and a ratio of delta(5) to delta(4) steroids in the spermatic vein indicated direct production of considerable amounts of testosterone and a persistent defect of 3 beta-HSD activity in the gonad...
1997: Hormone Research
B R Walker, S J Skoog, B H Winslow, D A Canning, E S Tank
PURPOSE: Surgical management of steroid unresponsive testicular tumors of the adrenogenital syndrome has been orchiectomy. Magnetic resonance imaging (MRI) of these tumors accurately delineates the extent of disease. Testis sparing surgery is an important consideration, since male individuals with congenital adrenal hyperplasia are potentially fertile. We present our results of surgical management of this tumor based on MRI findings. MATERIALS AND METHODS: Four boys with steroid unresponsive testicular tumors of the adrenogenital syndrome were evaluated with MRI, testicular ultrasound and color flow Doppler examinations preoperatively and postoperatively...
April 1997: Journal of Urology
Y Morel, F Mébarki, E Rhéaume, R Sanchez, M G Forest, J Simard
The transformation of delta 5-3 beta-hydroxysteroids into the corresponding delta 4-3-keto-steroids is an essential step for the biosynthesis of all classes of active steroids: progesterone, mineralocorticoids, glucocorticoids, androgens, and estrogens. These steroid hormones play a crucial role in the differentiation, development, growth, and physiological function of most human tissues. The structures of several cDNAs encoding 3 beta-HSD isoenzymes have been characterized in human and several other vertebrate species: human types I and II; macaque; bovine; rat types I, II, III, and IV; mouse types I, II, III, IV, V and VI; hamster types I, II, and III; and rainbow trout...
January 1997: Steroids
M Zachmann
No abstract text is available yet for this article.
April 1996: European Journal of Pediatrics
R Azziz, E L Bradley, H D Potter, L R Boots
OBJECTIVE: Deficient adrenocortical 3 beta-hydroxysteroid dehydrogenase activity has been reported in 5% to 30% of hyperandrogenic women. Our objective was to determine the incidence and degree of 3 beta-hydroxysteroid dehydrogenase deficiencies in hyperandrogenism. STUDY DESIGN: A prospective study of adrenal function in patients with hyperandrogenism was performed in a tertiary care university medical center. Eighty-six consecutive patients with hirsutism or hyperandrogenic oligomenorrhea were studied; 26 healthy eumenorrheic women served as controls...
March 1993: American Journal of Obstetrics and Gynecology
S F Cavanah, R F Dons
The postpubertal clinical presentation of 3 beta-hydroxysteroid dehydrogenase deficiency (3B-HSD deficiency) is less well-defined for adult males than for adult females, who often present with hirsutism. We describe a male with normal puberty who presented with new-onset gynecomastia at age 24. Common causes of gynecomastia were excluded. Dehydroepiandrosterone-sulfate (DHEA-S), estradiol, estrone, and 24-hour urinary 17-ketosteroid levels were elevated. A feminizing tumor was considered; biochemical tumor markers, chest x-ray, ultrasound of testes, and abdominal computed tomography (CT) scan were negative...
January 1993: Metabolism: Clinical and Experimental
J S Winter
Female adolescence is normally accompanied by increased adrenal and ovarian production of androgens. Indeed it is not uncommon in early to midpuberty to see typical features of adult polycystic ovary syndrome, with luteinizing hormone-driven ovarian hyperandrogenism, hyperinsulinemia, acne, anovulation, oligomenorrhea, and large, multifollicular ovaries. Unfortunately, no single prospective test can differentiate girls in whom this maturational stage is self-limited from those in whom it will progress to adult polycystic ovary syndrome with hirsutism and anovular infertility...
August 1993: Current Opinion in Pediatrics
J Simard, E Rhéaume, R Sanchez, N Laflamme, Y de Launoit, V Luu-The, A P van Seters, R D Gordon, M Bettendorf, U Heinrich
Congenital adrenal hyperplasia is the most frequent cause of adrenal insufficiency and ambiguous genitalia in newborn children. In contrast to congenital adrenal hyperplasia due to 21-hydroxylase and 11 beta-hydroxylase deficiencies, which impair steroid formation in the adrenal cortex, exclusively, classical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency affects steroid biosynthesis in the gonads as well as in the adrenals. The structures of the highly homologous type I and II 3 beta-HSD genes have been analyzed in three male pseudohermaphrodite 3 beta-HSD deficient patients from unrelated families in order to elucidate the molecular basis of classical 3 beta-HSD deficiency from patients exhibiting various degrees of severity of salt losing...
May 1993: Molecular Endocrinology
Y T Chang, M S Kappy, K Iwamoto, J Wang, X Yang, S Pang
Inherited adrenal and gonadal 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency is most likely caused by a mutation of the type II 3 beta-HSD gene. Cloning and sequencing of exons I-II, III, and IV and portions of the adjacent introns, amplified by polymerase chain reaction using primers specific for the type II gene, in one male pseudohermaphrodite with salt-wasting classic 3 beta-HSD deficiency congenital adrenal hyperplasia revealed the same mutation in all nine clones of exon IV consisting of a missense mutation at codon 248 [GTC(Val)-->AAC(Asn)] followed by a frameshift mutation at codon 249 [CGA (Arg)-->TA], resulting in a stop codon TAG, and normal sequences of exon I-II and III and the adjacent portions of introns...
November 1993: Pediatric Research
D M Cathro, S G Golombek
Over a three-and-a-half year period, 26 children with precocious pubarche or other forms of sexual precocity were studied. All had plasma steroid patterns analyzed, in most cases both before and after stimulation with ACTH. 17 of the children had elevation of the delta 5-steroids dehydroepiandrosterone and 17-OH-pregnenolone and their individual results are presented. Five of these children were diagnosed with probable late-onset 3 beta-HSD deficiency. The difficulties in differentiating this entity from idiopathic premature adrenarche are emphasized...
January 1994: Journal of Pediatric Endocrinology
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