Results 151 to 160 of about 53,137 (275)

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Care of Patients with Male Hypogonadism: A Joint Position Statement from the Brazilian Society of Endocrinology and Metabolism (SBEM), the Brazilian Society of Urology (SBU), and the Brazilian Association for Sexual Medicine and Health (ABEMSS). [PDF]

Int Braz J Urol
Hohl A, Lopes L, Ronsoni MF, Miranda EP, Fighera TM, Facio FN, Marchesan LB, Torres LO.   +7 more
europepmc   +1 more source

Retroperitoneal Extra‐Adrenal Paraganglioma Presenting With Secondary Amenorrhea and Hypertension in an Adolescent: A Rare Case From Sub‐Saharan Africa

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Extra‐adrenal paragangliomas are rare neuroendocrine tumors that may cause hypertension and reproductive dysfunction in adolescents. We report a 16‐year‐old girl with uncontrolled hypertension and secondary amenorrhea caused by a functional Organ of Zuckerkandl paraganglioma.
Getasew Kassaw Alemu, Ibraist Yohannes Haileyesus, Hirsi Haahi Ahmed, Ahmednasir Abdi Hasan, Mubarek Abdi Mohamed   +4 more
wiley   +1 more source

High triglyceride-glucose index and changes in triglyceride-glucose index are associated with an increased risk of hypogonadism in middle-aged Taiwanese men: a retrospective longitudinal study. [PDF]

Front Endocrinol (Lausanne)
Liao CC, Hung CL, Lee JD, Hsu YJ, Lin CY, Shih YL, Tsai SH.   +6 more
europepmc   +1 more source

Dietary Phytochemical Index and Its Relationship With Diminished Ovarian Reserve: Evidence From a Case–Control Study

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 4, July 2026.
A higher dietary phytochemical index was associated with lower odds of diminished ovarian reserve, highlighting the potential role of phytochemical‐rich diets in supporting ovarian function and reproductive health. ABSTRACT Introduction Diminished ovarian reserve (DOR) represents a significant contributor to female infertility and adverse reproductive ...
Mahdieh Khodarahmi, Gholamreza Askari, Mahdi Vajdi, Amin Mokari‐Yamchi, Hatav Ghasemi‐Tehrani, Maryam Kalatehjari, Abed Ghavami   +6 more
wiley   +1 more source

Taste and Smell Disturbances Associated With Secondary Adrenal Insufficiency: A Case Report

Journal of General and Family Medicine, Volume 27, Issue 4, July 2026.
ABSTRACT Background Adrenal insufficiency often presents with nonspecific symptoms, impeding early diagnosis. Taste and smell disturbances are rarely recognized as presenting features. Case Presentation We report the case of a 54‐year‐old man with a 3‐month history of persistent taste and smell disturbances accompanied by fatigue, loss of appetite ...
Takanori Izumi, Eri Doi, Yuki Tsutsui, Noboru Horinouchi, Rie Utsunomiya, Katsuhiko Yoshimura, Machiko Morita, Naoki Matsuda, Seiji Shiota   +8 more
wiley   +1 more source

Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist, Sumit Parikh, Thomas van Overeem Hansen, Flemming Wibrand, Elsebet Østergaard   +4 more
wiley   +1 more source

Delayed diagnosis of juvenile hemochromatosis due to missed ferritin testing in a case of hypogonadotropic hypogonadism. [PDF]

JCEM Case Rep
Agarwal P, Mithal A, Balakrishnan K, Tanguturu MK, Genny SRK.   +4 more
europepmc   +1 more source

Maternal, childhood and adolescent influences on Leydig cell functional capacity and circulating INSL3 concentration in young adults: Importance of childhood infections and body mass index

Andrology, Volume 14, Issue 5, Page 1172-1182, July 2026.
Abstract Background The constitutive Leydig cell hormone insulin‐like peptide 3 (INSL3) is considered a good estimate of the adult Leydig cell functional capacity and appears to remain relatively consistent throughout adult male life, only gradually declining into old age.
Richard Ivell, Bilal Tulumcu, Waleed Alhujaili, Ravinder Anand‐Ivell   +3 more
wiley   +1 more source

Physiotherapy of hypogonadism in men with body weigth components.

, 2014
Male hypogonadism is a clinical syndrome resulting from the testosterone deficiency. It may cause metabolic syndrome, visceral obesity, early atherosclerosis, Type 2 diabetes mellitus, osteoporosis, loss of muscle mass and deterioration of physical ...
Povilaitytė, Agnė,
core