Results 61 to 70 of about 401,716 (213)

Clonal Composition of Human Adrenocortical Neoplasms [PDF]

, 1994
The mechanisms of tumorigenesis of adrenocortical neoplasms are still not understood. Tumor formation may be the result of spontaneous transformation of adrenocortical cells by somatic mutations.
Travis, W., Beuschlein, Felix, Karl, M., Chrousos, G. P., Abdelhamid, S., Allolio, B., Jaursch-Hancke, C., Reincke, Martin   +7 more
core   +1 more source

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

The Need for a Global Registry for Charting the Natural History of Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Background Although Klinefelter Syndrome (KS) represents the most common sex chromosome aneuploidy, several gaps in knowledge persist regarding optimal management of individuals with this condition. Individuals with KS can have a diverse phenotype including endocrine, neurodevelopmental, and cardiovascular manifestations.
Malika Alimussina, Joseph McElvaney, Corinna Grasemann, Jillian Bryce, Lise Aksglaede, Claudia Boettcher, Lexi Breen, Francesco Carlomagno, Sabine Hannema, Andrea M. Isidori, Inas Mazen, Anna Nordenstrom, S. Faisal Ahmed, Angela K. Lucas‐Herald   +13 more
wiley   +1 more source

Genetics of congenital adrenal hyperplasia [PDF]

Best Practice & Research Clinical Endocrinology & Metabolism, 2009
Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of one of four steroidogenic enzymes involved in cortisol biosynthesis or in the electron donor enzyme P450 oxidoreductase (POR) that serves as electron donor to steroidogenic ...
Nils, Krone, Wiebke, Arlt
openaire   +2 more sources

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc [PDF]

, 2008
Context: Mitochondrial cytochrome P450scc converts cholesterol to pregnenolone in all steroidogenic tissues. Although progesterone production from the fetally-derived placenta is necessary to maintain pregnancy to term, four patients with mutations in ...
Huang, NW, Achermann, JC, Lin, L, Kim, CJ, Miller, WL, Quigley, CA, AvRuskin, TW   +6 more
core  

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

The Moral (Un)Desirability of New Biomedical Technologies as Potential Techno‐Fixes

Bioethics, EarlyView.
ABSTRACT The techno‐fix argument, used to argue against technological interventions that address the consequences of social problems instead of their underlying causes, is increasingly invoked in biomedical discussions. However, especially in biomedicine, the techno‐fix argument remains conceptually underdeveloped.
Lieke van Kempen, Martine C. de Vries, Nienke de Graeff   +2 more
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

Polyendocrine Metabolic Ovarian Syndrome and the Entire Spectrum of Gestational Dysglycemia: A Population‐Based Cohort Study

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Evaluating the association between polyendocrine metabolic ovarian syndrome (PMOS), traditionally termed polycystic ovary syndrome, and the broad spectrum of gestational dysglycemia in a large, universally screened population. Materials and Methods This retrospective cohort study used routinely collected data linked from Israeli military ...
Yulia Balmakov, Maya Nitecki, Hertzel C. Gerstein, Orit Pinhas‐Hamiel, Gabriel Chodick, Estela Derazne, Yael Barer, Noah Gruber, Aya Bardugo, Cole D. Bendor, Avi Shina, Arnon Afek, Tali Cukierman‐Yaffe, Gilad Twig, Adi Vinograd   +14 more
wiley   +1 more source