Results 31 to 40 of about 75,903 (304)

The "backdoor pathway" of androgen synthesis in human male sexual development. [PDF]

, 2019
Mammalian sex determination (male versus female) is largely controlled by genes, whereas sex differentiation (development of reproductive structures) is largely controlled by hormones. Work in the 20th century indicated that female external anatomy was a
Auchus, Richard J, Miller, Walter L
core   +2 more sources

21-hydroxylase deficiency and fertility

Medical alphabet, 2020
21-hydroxylase deficiency is the most common genetically determined adrenal steroidogenesis defect. One of the consequences of the disease developing as a result of this defect, congenital dysfunction of the adrenal cortex (CDAC), is a decrease in fertility in the form of infertility or early pregnancy loss.
M. M. Amiraslanova, I. V. Kuznetsova
openaire   +2 more sources

Late consequences of classic congenital adrenal hyperplasia and its long-term poor control in men (case report and literature review)

Ожирение и метаболизм, 2019
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder of the adrenal cortex characterized by impairment of cortisol biosynthesis (with possible impairment of aldosterone biosynthesis) and ...
Boris M. Shifman, Larisa K. Dzeranova, Ekaterina A. Pigarova, Anatoly N. Tiulpakov, Natalia S. Fedorova   +4 more
doaj   +1 more source

Variations in the management of acute illness in children with congenital adrenal hyperplasia: An audit of three paediatric hospitals [PDF]

, 2018
Objective: Episodes of acute adrenal insufficiency (AI)/adrenal crises (AC) are a serious consequence of congenital adrenal hyperplasia (CAH). This study aimed to assess morbidity from acute illness in CAH and identify factors associated with use of IV ...
Allolio, Bornstein, El-Maouche, Falhammar, Falhammar, Falhammar, Fleming, Gidlof, Gleeson, Hahner, Hahner, Huynh, Ishii, Kampmeyer, Khalid, Leblicq, Maguire, Merke, Neumann, Reisch, Rushworth, Rushworth, Rushworth, Rushworth, Speiser, Swerdlow   +25 more
core   +2 more sources

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Frontiers in Endocrinology, 2023
ObjectiveTo analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slovenia ...
Robert Saho, Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Magdalena Avbelj Stefanija, Primoz Kotnik, Primoz Kotnik, Tadej Battelino, Tadej Battelino, Zuzana Pribilincova, Urh Groselj, Urh Groselj   +21 more
doaj   +1 more source

Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]

, 2011
Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD) in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations
Laura J Chalmers, Paul Doherty, Claude J Migeon, Kenneth C Copeland, Brianna C Bright, Amy B Wisniewski   +5 more
core   +2 more sources

Specific characteristics of metabolomics as assessed by gas chromatography-mass spectrometry in patients with adrenocortical cancer and with adrenal incidentalomas in congenital adrenal hyperplasia

Alʹmanah Kliničeskoj Mediciny, 2022
Background: Prolonged episodes of uncontrolled congenital adrenal hyperplasia (CAH) have been shown to result in the occurrence of secondary adrenal neoplasms.
Zulfiya R. Shafigullina, Ludmila I. Velikanova, Natalia V. Vorokhobina, Ekaterina V. Malevanaya, Elena G. Strelnikova, Vagan Yu. Bokhian, Timur A. Britvin, Ivan S. Stilidi   +7 more
doaj   +1 more source

Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency

Case Reports in Medicine, 2009
We present incidentally discovered adrenal myelolipomas in two adult males with untreated congenital adrenal hyperplasia (CAH). The patients had simple virilizing form of CAH due to mutations in the CYP21 gene coding for 21-hydroxylase; one was ...
Ingrid Nermoen, Ivar Følling, Kjetil Vegge, Arne Larmo, Bjørn Gunnar Nedrebø, Eystein Sverre Husebye, Kristian Løvås   +6 more
doaj   +1 more source

Prior to versus after Metformin Treatment—Effects on Steroid Enzymatic Activities

Life, 2023
Background: We recently reported that metformin administration has substantial effects on steroid hormone concentrations. In this study, we specifically explored which enzymatic activities were affected before a first treatment versus after a time of ...
Benedikt Gasser, Genevieve Escher, Anca-Elena Calin, Michael Deppeler, Miriam Marchon, Hiten D. Mistry, Johann Kurz, Markus G. Mohaupt   +7 more
doaj   +1 more source

Vitamin D: Newer Concepts of Its Metabolism and Function at the Basic and Clinical Level. [PDF]

, 2020
The interest in vitamin D continues unabated with thousands of publications contributing to a vast and growing literature each year. It is widely recognized that the vitamin D receptor (VDR) and the enzymes that metabolize vitamin D are found in many ...
Bikle, Daniel D
core   +1 more source