Results 111 to 120 of about 2,389,640 (367)

Analysis of Steroid 21-Hydroxylase Gene in Five Unrelated Japanese Patients with 21-Hydroxylase Deficiency

Endocrinologia Japonica, 1987
DNA samples from five unrelated Japanese patients with 21-hydroxylase (21-OHase) deficiency were studied by Southern analysis using human 21-OHase cDNA. Patterns seen after digestion with not only TaqI but also KpnI showed that two out of the five patients were homozygous for a deletion of the 21-OHase B gene.
Jun Nakura, Shin-ichiro Takai, Osamu Nose, Yuichi Kumahara, Ken-ichiro Fukuchi, Tasuku Honjo, Tasuku Honjo, Kazuo Shimizu, Perrin C. White, Tetsuro Miki   +9 more
openaire   +4 more sources

An XX male with 21-hydroxylase deficiency [PDF]

Pediatric Research, 1981
The patient is the second child of healthy unrelated parents,his older brother is normal. At birth the genitalia were ambiguous; the phallus was adequate in size but there was chordee and perineal hypospadias. The labio-scrotal folds were fused. Gonads were palpable in both groins. The karyotype (blood and skin) was normal female XX.
D B Grant, N D Barnes
openaire   +1 more source

The Locus Coeruleus‐Periaqueductal Gray GABAergic Projection Regulates Comorbid Pain and Depression

Advanced Science, EarlyView.
LC‐GABA neurons exhibit elevated activity to noxious and aversive stimuli in chronic pain, and their activation alleviates pain‐ and depression‐like behaviors. While LC‐GABA neurons target LC‐NA neurons and GABA and Glu neurons in the vlPAG, they modulate the pain responses of LC‐NA neurons but regulate pain‐ and depression‐like behaviors through their
Yuan Gao, Xue Zhang, Xiao‐Juan Liu, Yi‐Ling Sun, Cui Yin, Dong‐Liang Tang, Cheng Xiao, Chunyi Zhou   +7 more
wiley   +1 more source

Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant

Frontiers in Pediatrics, 2020
Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3β-hydroxysteroid dehydrogenase; 17α-hydroxylase/17,20 lyase; P450 oxidoreductase; 21 ...
Antonio Balsamo, Federico Baronio, Rita Ortolano, Soara Menabo, Lilia Baldazzi, Valeria Di Natale, Sofia Vissani, Alessandra Cassio   +7 more
doaj   +1 more source

Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency.

Journal of Clinical Endocrinology and Metabolism, 2015
CONTEXT Marked elevations of 17-hydroxyprogesterone (17OHP) are characteristic of classic 21-hydroxylase deficiency (21OHD). Testing of 17OHP provides the basis for 21OHD diagnosis, although it suffers from several pitfalls.
Adina F. Turcu, J. Rege, Robert Chomic, Jiayan Liu, H. K. Nishimoto, T. Else, A. Moraitis, G. Palapattu, W. Rainey, R. Auchus   +9 more
semanticscholar   +1 more source

Designed Biomaterial‐Enhanced Cell Transplantation for Neural Tissue Engineering

Aggregate, EarlyView.
Biomaterials offer a promising solution for cell transplantation in the central nervous system by creating a protective environment that enhances cell survival, integration, and functional recovery in preclinical models of neurological disorders. ABSTRACT Cell transplantation therapy in the central nervous system is hindered by limited survival and ...
Yun Tang, Alice Le Friec, Menglin Chen, Di Sun   +3 more
wiley   +1 more source

Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany

BMC Endocrine Disorders, 2018
Background Adrenal crises in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) are life-threatening and have the potential to death.
Helmuth G. Dörr, Hartmut A. Wollmann, Berthold P. Hauffa, Joachim Woelfle, on behalf of the German Society of Pediatric Endocrinology and Diabetology   +4 more
doaj   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency [PDF]

, 2010
Objective: Patients with congenital adrenal hyperplasia due to P450 oxidoreductase (POR) deficiency(ORD) present with disordered sex development and glucocorticoid deficiency.
Arlt, Bebia, Chang, de Morais, Dominique Maiter, Dorota Tomalik-Scharte, Fl  ck, Fuhr, Gomes, Hannah E Ivison, Henderson, Jetter, Julia Kirchheiner, Kelley, Kirchheiner, Kranendonk, Nebert, Nicolo, Parkinson, Porter, Ribes, Sachse, Tantcheva-Po  r, Tomalik-Scharte, Uwe Fuhr, Wiebke Arlt   +25 more
core   +2 more sources

Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact

Journal of Biochemical and Clinical Genetics, 2019
Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolically inherited disorder, caused by an abnormal function of the branched-chain α-keto acid dehydrogenase complex in the mitochondria.
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair   +2 more
doaj   +1 more source