Results 71 to 80 of about 32,077 (214)

Congenital adrenal hyperplasia in the adult women: management of old and new challenges [PDF]

, 2014
Due to major improvements in the management and therapy of patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency (21OHD) along childhood and adolescence, affected women are able to reach adulthood.
Costa-Barbosa, Flávia A., Kater, Claudio Elias, Telles-Silveira, Mariana   +2 more
core   +3 more sources

Adrenal Tumor Mimicking Non-Classic Congenital Adrenal Hyperplasia

Frontiers in Endocrinology, 2020
Elevated 17-hydroxyprogesterone may be caused by congenital adrenal hyperplasia, ovarian or adrenal tumors. A positive cosyntropin stimulation test result for 17-hydroxyprogesterone may be found in functional or non-functional tumors and be related to ...
Wen-Hsuan Tsai, Chian-Huey Wong, Shuen-Han Dai, Chung-Hsin Tsai, Yi-Hong Zeng, Yi-Hong Zeng   +5 more
doaj   +1 more source

Case report: Coexistence of Jacobs syndrome, congenital adrenal hyperplasia, and ambiguous genitalia in a male infant

Clinical Case Reports, 2023
Key Clinical Message Jacobs syndrome and congenital adrenal hyperplasia are separate entities but share common clinical features such as ambiguous genitalia.
Qaisar Ali Khan, Faiza Amatul‐Hadi, Amritpal Kooner, Amber Lee, Rahma Ahmed, Adithya Nadella, Harshawardhan Pande, Yaxel Levin‐Carrion, Muhammad Afzal, Moses Alfaro   +9 more
doaj   +1 more source

Abcc1 deficiency protects from corticosterone but not cortisol‐induced adiposity and insulin resistance in a sex‐specific manner

The Journal of Physiology, EarlyView.
Abstract figure legend A mouse model of exogenous glucocorticoid (GC) treatment was used to determine (1) if corticosterone induced the same metabolic dysregulation as cortisol, and (2) whether these differences were mediated by the corticosterone‐specific transmembrane exporter Abcc1.
Mhairi A. Paul, Boglarka Nagy, Sofia Laforest, Joanna P. Simpson, William Mungall, Natalie Z. M. Homer, Robert K. Semple, Ruth Andrew, Roland H. Stimson, Mark Nixon   +9 more
wiley   +1 more source

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.
Abdelhamid, S., Allolio, B., Beuschlein, Felix, Chrousos, G. P., Jaursch-Hancke, C., Karl, M., Reincke, Martin, Travis, W.   +7 more
core  

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

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +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

Comprehensive Quantitative Urinary Steroid Profiling of 29 Steroids Using Liquid Chromatography‐Tandem Mass Spectrometry

Analytical Science Advances, Volume 7, Issue 1, June 2026.
ABSTRACT Steroids are critical for numerous physiological processes; disruption in their metabolism is associated with numerous endocrine disorders. Steroid quantification is essential to improve the understanding and diagnosis of these pathologies. Historically, urinary steroid profiling has been performed using low‐throughput gas chromatography mass ...
Joshua T. Bain, Fozia Shaheen, Alessandro Prete, Lorna C. Gilligan, Angela E. Taylor   +4 more
wiley   +1 more source

Slipped capital femoral epiphysis in an adolescent with congenital adrenal hyperplasia: A case report

Clinical Case Reports
Key Clinical Message In previous reports, hypothyroidism, hypopituitrism, and hypogonadism were common endocrine causes of SCFE, but this is the first time that congenital adrenal hyperplasia has been observed.
Yi‐Fan Huang, Jin‐Han Qiao, Jia Zheng   +2 more
doaj   +1 more source