Results 81 to 90 of about 32,087 (214)

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

Adrenal Biomarkers of Stress in Transgender and Gender‐Diverse Adolescents

Developmental Psychobiology, Volume 68, Issue 3, May 2026.
ABSTRACT Transgender and gender diverse (TGD) adolescents are frequently exposed to minority stress, which may influence the hypothalamic–pituitary–adrenal (HPA) axis during critical developmental windows. Altered cortisol dynamics have been described in populations facing chronic stress, yet evidence in TGD youth is limited.
Simone Coslovich, Stefania Tonetto, Giulia Bragato, Gianluca Tamaro, Alice Fachin, Paolo Dalena, Lorenzo Zandonà, Antonella Fabretto, Egidio Barbi, Gianluca Tornese   +9 more
wiley   +1 more source

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

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 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

Congenital Adrenal Hyperplasia in Adults [PDF]

, 2010
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting adrenal steroid synthesis. More than 95% of CAH cases are caused by reduced 21-hydroxylase function leading to variable extent of cortisol and aldosterone deficiency in ...
Falhammar, Henrik
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

DEVELOPMENT OF POLYCYSTIC OVARY SYNDROME IN A PATIENT SUFFERING FROM CLASSIC CONGENITAL ADRENAL CORTICAL HYPERPLASIA

Кубанский научный медицинский вестник, 2017
Aim. To demostrate the complexity of the diagnosis and the consequences of the effect of insufficient hormone replacement therapy on the prognosis of the patient with the viril form of congenital adrenal cortical hyperplasia. Materials and methods.
L. A. IVANOV, I. V. KOROL, YU. S. KOVALENKO, E. A. KOKOVA, A. V. MEZINOVA, Y. A. LIPNICKAYA   +5 more
doaj   +1 more source

Cerebrovascular Function in Women With Polycystic Ovary Syndrome: A Pilot Multi‐Parameter Magnetic Resonance Imaging Study

Clinical Endocrinology, Volume 104, Issue 5, Page 493-506, May 2026.
ABSTRACT Objective Polycystic ovary syndrome (PCOS) is associated with an increased risk of cerebrovascular disease, but the effects on cerebrovascular function are unknown. In this pilot study, we sought to compare cerebrovascular perfusion, pulsatility, reactivity and metabolism between women with PCOS and healthy volunteers using MRI, and ...
Melissa E. Wright, Cory T. Richards, Saajan Davies, Rachel N. Lord, D. Aled Rees, Kevin Murphy   +5 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