Sexuality in Males With Congenital Adrenal Hyperplasia Resulting From 21-Hydroxylase Deficiency
Journal of the Endocrine Society, 2019 Purpose Although sexuality has been reported to be impaired in females with congenital adrenal hyperplasia (CAH) resulting from 21-hydroxylase deficiency, sexuality in males with CAH so far has remained largely unconsidered.
Katharina Gehrmann +11 more
semanticscholar +1 more source
Advanced Science, EarlyView.Disrupted neurovascular coupling contributes to ovarian dysfunction in polycystic ovary syndrome. Using near‑infrared II long‑wavelength imaging, this study visualizes how electroacupuncture dynamically regulates ovarian blood vessels in vivo. Immediate and cumulative stimulation elicit distinct vascular responses via a Netrin‐1 dependent mechanism ...
Yicong Wang +15 more
wiley +1 more source
Normal ambulatory blood pressure in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy [PDF]
, 2022 Juliano Henrique Borges +8 more
openalex +1 more source
Dorsal Raphe VIP Neurons Are Critical for Survival‐Oriented Vigilance
Advanced Science, EarlyView.DRNVIP neurons in mice and primates are strategically positioned to influence the central extended amygdala via feedback loops. They regulate the excitability of PKC‐δ neurons in the ovBNST and CeA through glutamate release. Their ablation heightens activity in these regions, disrupts active‐phase sleep architecture, enhances risk assessment behaviors ...
Adriane Guillaumin +15 more
wiley +1 more source
Déficit de 21-hidroxilasa: aspectos actuales Deficiency of 21-hydroxylase: current aspects
Revista de Ciencias Médicas de Pinar del Río, 2009 La hiperplasia suprarrenal congénita (HSC) es una de las alteraciones autosómicas recesivas más frecuentes, caracterizada por un defecto enzimático en la síntesis de cortisol, la causa es en el 95% de los casos, la deficiencia de la enzima 21-hidroxilasa
Deysi Licourt Otero +1 more
doaj
Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón +10 more
wiley +1 more source
REPORT OF 285 PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA AND EVALUATION OF APPROXIMATE REVALENCE OF THE DISEASE IN IRAN [PDF]
Acta Medica Iranica, 1999 In this study, 285 cases of congenital adrenal hyperplasia who were followed in the Tehran University Hospitals and Institute of Endocrinology and Metabolism arc reported. Among these cases, 165 (57.9%) were female and 120 (42.1%), male.
H. Moayeri, A.Rabbani
doaj +2 more sources
A recent overview of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: pathophysiology, recognition, and management [PDF]
, 2023 Rafał Podgórski +2 more
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Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
wiley +1 more source
Sexual Orientation in Individuals With Congenital Adrenal Hyperplasia: A Systematic Review
Frontiers in Behavioral Neuroscience, 2020 Congenital adrenal hyperplasia (CAH) is a genetic condition of the steroidogenic enzymes in the adrenal cortex normally leading to variable degrees of cortisol and aldosterone deficiency as well as androgen excess.
Elisabeth Daae +5 more
doaj +1 more source