Results 91 to 100 of about 401,716 (213)

Testicular Biopsies in Adolescent and Adult Andrological Patients: The EAA Clinical Guidelines

Andrology, Volume 14, Issue 7, Page 1906-1928, October 2026.
ABSTRACT Background Histological evaluation of testicular tissue is central to the assessment of infertile men, particularly those at an increased risk of testicular germ cell tumors (TGCT). Traditionally, testicular biopsies have been used primarily for diagnostic purposes, such as the detection of germ cell neoplasia in situ (GCNIS). With advances in
Lise Aksglaede, George Kanakis, Ewa Rajpert‐De Meyts, Davor Jezek, Ferran Algaba, Gert Dohle, Jolanta Slowikowska‐Hilczer, Sabine Kliesch, Hermann M. Behre, Csilla Krausz, Dimitrios G. Goulis, Niels Jørgensen   +11 more
wiley   +1 more source

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure [PDF]

, 2005
Disruption of the P450 side-chain cleavage cytochrome (P450scc) enzyme due to deleterious mutations of the CYP11A1 gene is thought to be incompatible with fetal survival because of impaired progesterone production by the fetoplacental unit.
Werner, R, Hiort, O, Achermann, JC, Riepe, FG, Partsch, CJ, Holterhus, PM, Marschke, C, Hoppe, U, Struve, D   +8 more
core  

A Case of Lipoid Congenital Adrenal Hyperplasia Presenting with Cholestasis [PDF]

, 2013
Background:Lipoid congenital adrenal hyperplasia, is the rarest and usually the most severe form of adrenal steroidogenic defect,which may presents as infantile cholestasis.
Kiani, Mohammad-ALi, Khodadad, Ahmad, Modaresi, Vajiheh, Rabani, Ali, Pakseresht, Bahar   +4 more
core   +2 more sources

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

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

Anti‐Müllerian Hormone and Metabolic–Hormonal Profiles in Women With and Without Polycystic Ovary Syndrome: A Population‐Based Study

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
In this population‐based study of 883 women, AMH declined less with age in women with PCOS than in healthy women. Higher AMH may protect older healthy women from T2DM but indicates elevated metabolic risk in younger women with PCOS, supporting its role as a life‐course biomarker for metabolic risk stratification.
Fahimeh Ramezani Tehrani, Maryam Mousavi, Marzieh Saei Ghare Naz, Maryam Farahmand, Masoumeh Jorjani, Fatemeh Mahboobifard   +5 more
wiley   +1 more source

Gonadotropin Suppression During Mini‐Puberty as an Early Biomarker of Classic 21‐Hydroxylase Deficiency

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
To prevent life‐threatening adrenal crisis and to help perform appropriate sex assignment in affected female patients, newborn screening for 21‐hydroxylase deficiency (21OHD) relies on 17‐hydroxyprogesterone but has a high false‐positive rate. Neonatal LH and FSH suppression during mini‐puberty clearly distinguished classic 21OHD from non‐classic and ...
Ryosei Iemura, Yuri Suzuki, Maki Gau, Ryuta Orimoto, Haruki Yamano, Hisae Nakatani, Shizuka Kirino, Yoko Saito, Eriko Adachi, Atsumi Tsuji‐Hosokawa, Kenichi Kashimada, Kei Takasawa   +11 more
wiley   +1 more source

Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder

Case Reports in Endocrinology
Summary. Disorders of sexual differentiation are defined as congenital alterations between chromosomal, gonadal, and phenotypic sex. The principal cause of these disorders is an adrenal origin; however, there are infrequent causes, such as congenital ...
Raúl Villanueva Rodríguez, Alberto Vielma Valdez, Maricruz Cassou Martinez, Laura Leticia Pérez Corrales, Ramón G. de los Santos Aguilar, Luis David Sol Oliva   +5 more
doaj   +1 more source

Polycystic Ovary Syndrome and Subjective and Objective Assessments of Sleep Quality: A Systematic Review and Meta‐Analysis

Health Science Reports, Volume 9, Issue 9, September 2026.
ABSTRACT Background and Aims Sleep disturbances are increasingly recognized in women with polycystic ovary syndrome (PCOS), but the evidence remains inconsistent. We conducted a meta‐analysis to evaluate objective sleep abnormalities and subjective sleep complaints in women with PCOS.
Arefeh Tabashiri, Pourya Kanani, Marzieh Saei Ghare Naz, Fahimeh Ramezani Tehrani   +3 more
wiley   +1 more source

Clinical Application of Long‐Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
The third‐generation sequencing was used to detect the FMR1 gene, whose abnormalities are the primary causes of fragile X syndrome (FXS). Finally, a mutation database of the FMR1 gene in Shandong, China was established and provided prenatal diagnosis and genetic counseling for relevant individuals.
Yan Li, Fei Hou, Shan Shan, Yingying Peng, Hua Jin   +4 more
wiley   +1 more source