Results 81 to 90 of about 29,100 (161)

A Neonate Presenting with Severe Dehydration - A Case of Congenital Adrenal Hyperplasia with Salt Losing Crisis

Journal of Nepal Medical Association
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in genes involved in cortisol biosynthesis in the adrenal gland. Depending on the enzymatic defect, the symptoms, signs, and laboratory findings differ.
Anita Lamichhane, Rekha Phuyel, Manish Upreti, Ramesh Khadka   +3 more
doaj   +1 more source

Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]

, 2017
Context: Reports on mortality in patients with congenital adrenal hyperplasia (CAH) are lacking. Objective: To study mortality and causes of death in CAH.
Almqvist, C., Falhammar, H., Frisén, L., Linden Hirschberg, A., Nordenskjöld, A., Nordenström, A., Norrby, C.   +6 more
core   +1 more source

Massive adrenal incidentalomas and late diagnosis of congenital adrenal hyperplasia in prostate cancer

Endocrinology, Diabetes & Metabolism Case Reports, 2017
In a 61-year-old Caucasian male with prostate cancer, leuprolide and bicalutamide failed to suppress the androgens. He presented to endocrinology with persistently normal testosterone and incidental massive (up to 18 cm) bilateral adrenal myelolipomas ...
Xin Feng, Gregory Kline
doaj   +1 more source

Classic virilizing congenital adrenal hyperplasia presenting late: case series from Pakistan [PDF]

, 2009
Deficiency of 21 hydroxylase enzyme deficiency (21OH) activity accounts for 90% cases of congenital adrenal hyperplasia (CAH). This results in deficient cortisol, increased ACTH, adrenal hyperplasia and increased adrenal androgen secretion.
Aban, Muniba, Jabbar, Abdul, Khan, Aysha Habib, Moatter, Tariq, Naeem-ul-Haq,, Rameez-ul-Hassan,, Raza, Jamal   +6 more
core   +1 more source

Incentive processing in Congenital Adrenal Hyperplasia (CAH): a reward-based antisaccade study [PDF]

, 2013
Little is known about how steroid hormones contribute to the beneficial effect of incentives on cognitive control during adolescent development. In this study, 27 adolescents with Congenital Adrenal Hyperplasia (CAH, mean age 15.6 years, 12 female), a ...
Carlisi, Christina, Daniele, Teresa, Ernst, Monique, Hardin, Michael, Korelitz, Katherine, Macintyre, Jessica, Merke, Deborah, Müller, Sven, VanRyzin, Carol   +8 more
core   +2 more sources

Pre-hospital management of acute Addison’s Disease – Audit of patients attending a referral hospital in a regional area [PDF]

, 2019
Context: Adrenal crises (AC) cause morbidity and mortality in patients with Addison’s disease [primary adrenal insufficiency (PAI)]. Patient-initiated oral stress dosing, with parenteral hydrocortisone, is recommended to avert ACs. While these should be
Goubar, Thomas, McGrath, Shaun, Rushworth, R Louise, Torpy, David J   +3 more
core   +1 more source

Altura final na hiperplasia suprarrenal congênita: o dilema do hipercortisolismo versus hiperandrogenismo [PDF]

, 2013
OBJECTIVE: The purpose of this study was to identify factors that might interfere with reaching the final height in patients with 21-hydroxylase deficiency (21-OHD).
Chagas, Antônio José das, Cordeiro, Giovana Vignoli, Goulart, Eugênio Marcos Andrade, Kater, Claudio Elias, Silva, Ivani Novato   +4 more
core   +2 more sources

Abstracts

Molecular Oncology, Volume 19, Issue S1, Page 1-895, June 2025.
Abstracts submitted to the ‘EACR 2025 Congress: Innovative Cancer Science’, from 16–19 June 2025 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
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   +2 more sources

Disorders of sex development (DSD): an overview of recent scientific advances [PDF]

, 2014
Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
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