Results 51 to 60 of about 19,833 (220)

Genome editing in the adrenal gland: a novel strategy for treating congenital adrenal hyperplasia [PDF]

Exploration of Endocrine and Metabolic Diseases
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency leads to high morbidity and mortality, despite the availability of life-saving corticosteroid replacement therapy.
Eva B. van Dijk, Samantha L. Ginn, Ian E. Alexander, Lara E. Graves   +3 more
doaj   +1 more source

Congenital adrenal hyperplasia in men: classical form. Clinical case

Mìžnarodnij Endokrinologìčnij Žurnal, 2021
Recently, in the foreign scientific literature there have been reports that boys and young men with the classic virile form of congenital adrenal hyperplasia or congenital dysfunction of the adrenal cortex as a result of inadequate glucocorticoid therapy
P.M. Liashuk, N.I. Stankova, R.P. Liashuk   +2 more
doaj   +1 more source

Congenital Adrenal Hyperplasia [PDF]

Archives of Disease in Childhood, 1974
Congenital adrenocortical hyperplasia is a complex endocrine disorder of importance to the paediatric urologist because it produces an intersex state in the female and precocious virilisation in the male. The excessive secretion of androgens by the foetal adrenal cortex commences in early foetal life at some time after the differentiation of the ...
openaire   +2 more sources

Mutations Of Pro30Leu And Val281Leu Of The Cyp21 Gene In Patients Diagnosed With Ambiguous Genitalia. [PDF]

, 2002
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal ...
Muhamad, Y.K., Ramli, S.F., Rus Anida, A., Sidek, M.Ros, Fuziah, M.Z., Isa, M.N.   +5 more
core  

Congenital adrenal hyperplasia – current insights in pathophysiology, diagnostics and management [PDF]

, 2021
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of ...
Falhammar, Henrik, Ahmed, S Faisal, Reisch, Nicole, Sandberg, David E, Miller, W.L., Merke, Deborah P, Sandberg, DE, Speiser, P.W., Arlt, W, Falhammar, H, Sandberg, David, Flück, Christa E, Speiser, PW, Fluck, CE, White, P.C., Claahsen-van der Grinten, Hedi, Krone, Nils, Auchus, R.J., Kortmann, BBM, Reisch, N, Touraine, P, White, PC, Arlt, W., Ahmed, S.F., Merke, DP, Guasti, L., Faisal Ahmed, S, Ahmed, SF, Huebner, A, Touraine, Philippe, Touraine, P., Fluck, Christa, Huebner, Angela, Claahsen-van der Grinten, H.L., Stikkelbroeck, Nike M M L, Wudy, S.A., Miller, WL, Wudy, Stefan A, Utari, Agustini, Claahsen-van der Grinten, Hedi L, Stikkelbroeck, N., Utari, A., Miller, Walter L, White, Perrin C, Nordenström, A., Stikkelbroeck, NMML, Auchus, RJ, Kortmann, Barbara B M, Nordenstrom, A, Krone, N, Claahsen-van der Grinten, HL, Kortmann, B.B.M., Huebner, A., Utari, A, Auchus, Richard J, Speiser, Phyllis, Krone, N., Arlt, Wiebke, Flück, C.E., Claahsen - van der Grinten, Hedi L, Guasti, Leonardo, Guasti, L, Stikkelbroeck, Nike, Kortmann, Barbara B, Wudy, SA, Sandberg, D.E., Merke, D.P., Nordenstrom, Anna, White, Perrin, Reisch, N., Speiser, Phyllis W, Falhammar, H.   +71 more
core   +1 more source

CONGENITAL ADRENAL CORTEX HYPERPLASIA IN A NEWBORN (CLINICAL CASE)

Неонатологія, хірургія та перинатальна медицина, 2019
Congenital adrenal cortex hyperplasia combines a group of monogenic diseases with an autosomal recessive fashion based on defects in enzymes or transport proteins involved in adrenal steroidogenesis.
N.M. Kretsu, L.V Kolyubakina, T.N. Kretsu, L.F. Balytska   +3 more
doaj   +1 more source

Evaluation of Potential Hormonal Activities of Ashwagandha (Withania somnifera)

Phytotherapy Research, EarlyView.
ABSTRACT Ashwagandha is a widely used herb in traditional medicine systems, particularly Ayurveda. Despite its extensive tradition, growing concerns regarding its potential endocrinological effects have prompted scientific scrutiny. This review systematically evaluates the current preclinical, clinical, and case study evidence concerning AS's effects ...
Günter Vollmer, Thomas Brendler
wiley   +1 more source

Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation

Jornal de Pediatria, 2019
Objective: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases.
Cristiane Kopacek, Mayara J. Prado, Claudia M.D. da Silva, Simone M. de Castro, Luciana A. Beltrão, Paula R. Vargas, Tarciana Grandi, Maria L.R. Rossetti, Poli Mara Spritzer   +8 more
doaj   +3 more sources

Association Between FTO rs1558902 Polymorphism, Age‐Related Hypogonadism, and Central Obesity in Japanese Men

Andrology, EarlyView.
ABSTRACT Background Obesity and low testosterone levels are closely interconnected, with the FTO gene being the most robust genetic determinant of body mass index (BMI). However, whether this primary genetic driver of obesity directly influences the hypothalamic‐pituitary‐testicular (HPT) axis remains unclear.
Takahiro Tsutsumi, Hideyuki Okuma, Fuminori Kazama, Masumi Endo, Yuna Takato, Hitomi Nara, Asako Miyazaki, Nozomi Harai, Kyoichiro Tsuchiya   +8 more
wiley   +1 more source

Neoplastic Risk in Patients With Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Background Besides gonadal involvement (hypogonadism, male factor infertility, and testicular hypotrophy), patients with Klinefelter syndrome (KS) may suffer from several extra‐gonadic complications, including neoplastic events. Objective The aim of this review is to summarize all major clinical evidence dealing with the association between KS
Andrea Graziani, Giuseppe Grande, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +4 more
wiley   +1 more source