Results 81 to 90 of about 401,716 (213)

Erratum: Congenital adrenal hyperplasia: diagnostic advances [PDF]

, 2007
Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex.
Biason-Lauber, Anna, Torresani, T, Anna Biason‐Lauber, T. Torresani   +3 more
core   +1 more source

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

Glucocorticoids modulate drug transporter function in human fetal brain endothelial cells

The Journal of Physiology, EarlyView.
Abstract figure legend P‐glycoprotein and breast cancer resistance protein are the most prominent drug transporters at the fetal blood–brain barrier. We isolated primary human fetal brain endothelial cells from early and mid‐gestation cerebral microvessels and exposed them to glucocorticoids cortisol and dexamethasone in vitro.
Nikola Ivanovski, Phetcharawan Lye, Enrrico Bloise, Stephen G. Matthews   +3 more
wiley   +1 more source

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
core  

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

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

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Diagnostic Discordance in Recurrent Pregnancy Loss: Hysteroscopy Resolves Ultrasound–MRI Disagreement in Septate Uterus, but Concurrent Ovulation Induction Precludes Causal Attribution of the Reproductive Outcome

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Congenital uterine anomalies are an important and potentially treatable contributor to recurrent pregnancy loss (RPL). The septate uterus is the commonest Müllerian anomaly linked to first‐trimester loss, and its differentiation from the benign arcuate uterus is essential for management, yet imaging modalities may disagree.
Iftekhar Ahmed Sakib, Ayesa Perveen, Nishad Tasnim   +2 more
wiley   +1 more source

Semaglutide and laparoscopic sleeve gastrectomy in an adolescent with congenital adrenal hyperplasia due to 21-hydroxylase: a case report

Journal of Medical Case Reports
Background Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens.
Alaina P. Vidmar, Linus Kaiser, Matthew J. Martin, Stuart Abel, Aimee G. Kim, Madeleine Weitzner, Cynthia E. Muñoz, Lynda K. Fisher, Mimi S. Kim, Kamran Samakar   +9 more
doaj   +1 more source