Results 71 to 80 of about 41,875 (218)

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

Budd–Chiari Syndrome in the Background of Chronic Kidney Disease: A Hypercoagulability‐Driven Association or Coincidence? A Case Report

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Budd–Chiari syndrome (BCS) is a rare condition characterized by hepatic venous outflow obstruction and is often associated with thrombosis or fibrous membranes (webs). To our knowledge, this is the first reported case of BCS occurring secondary to chronic kidney disease (CKD).
Anish Paudyal, Sanjay Dhungana, Sachin Bhatta, Sphurna Karki, Sapana Koirala, Parbatraj Regmi, Sagar Mani Regmi, Subhash Paudel   +7 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

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia

Archives of Disease in Childhood, 2019
Background In 2002, a nationwide screening for congenital adrenal hyperplasia (CAH) was introduced in the Netherlands. The aim of our study is to evaluate the validity of the neonatal screening for CAH and to assess how many newborns with salt-wasting ...
A. A. van der Linde, Y. Schönbeck, H. J. van der Kamp, E. V. D. van den Akker, M. V. van Albada, A. Boelen, M. Finken, S. Hannema, Gera Hoorweg-Nijman, R. Odink, P. Schielen, Saartje Straetemans, P. V. van Trotsenburg, H. Claahsen-van der Grinten, P. Verkerk   +14 more
semanticscholar   +1 more source

Normal Immune Function in a Newborn With Early Identification of a SAMD9 Mutation Presenting With Growth Restriction, Thrombocytopenia, and Primary Adrenal Insufficiency

Clinical Case Reports, Volume 13, Issue 11, November 2025.
A de novo SAMD9 variant G1048R is associated with MIRAGE syndrome symptoms in a neonate. SAMD9 G1048R's predicted tertiary structure has similarity to known MIRAGE variants. SAMD9 expression is increased in pediatric viral infection. Neonatal MIRAGE may lack immune deficiency and myelodysplastic syndrome.
Kevin MingJie Gao, Qiu Yu Judy Huang, Polly Huang, Anum Muzaffar, Ramin Beheshti, Robert Wood, Jennifer Dantzer, Maria J. Gutierrez   +7 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

Intradialytic hypertriglyceridemia can be associated with priapism: A case report of congenital adrenal hyperplasia with kidney failure

Український Журнал Нефрології та Діалізу
Data on kidney failure in patients with congenital adrenal hyperplasia are rare. To the best of our knowledge, there is no data on how to manage patients with congenital adrenal hyperplasia during hemodialysis sessions.
Nabadwip Pathak, Sunil Kumar Nanada, Moses Ambriose   +2 more
doaj   +1 more source

Glucocorticoid activity of adrenal steroid precursors in untreated patients with congenital adrenal hyperplasia.

Journal of Clinical Endocrinology and Metabolism, 2019
CONTEXT AND OBJECTIVE We describe clinical features and biochemical characteristics of a unique population of severely affected untreated patients with congenital adrenal hyperplasia (CAH) from an Indonesian population, with proven cortisol deficiency ...
M. Engels, K. Pijnenburg-Kleizen, Agustini Utari, S. Faradz, Sandra Oude-Alink, A. V. van Herwaarden, P. Span, F. Sweep, H. Claahsen-van der Grinten   +8 more
semanticscholar   +1 more source

The Association Between Polycystic Ovary Syndrome and Vitamin D Deficiency in Infertile Women: A Case‐Control Study

Health Science Reports, Volume 8, Issue 11, November 2025.
ABSTRACT Background and Aims Vitamin D deficiency is a common nutritional problem in women of childbearing age. Polycystic ovary syndrome (PCOS) is a frequent endocrine disorder associated with various metabolic complications. While meta‐analyses of interventional trials have explored the role of vitamin D in PCOS, there is a lack of local data from ...
Fatemeh Yari, Fatemeh Janani, Parasto Baharvand, Ali Momeni   +3 more
wiley   +1 more source

Assisted Reproduction in Congenital Adrenal Hyperplasia

Frontiers in Endocrinology, 2019
Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders characterized by defects of adrenal steroidogenesis due to mutations in one of the following enzymes: 21-hydroxylase (21OH), 11β-hydroxylase (11βOH), 17α-hydroxylase (17OH ...
A. Chatziaggelou, E. Sakkas, R. Votino, M. Papagianni, G. Mastorakos   +4 more
semanticscholar   +1 more source