Results 71 to 80 of about 278,652 (177)

Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]

, 2002
Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Beck-Peccoz, P, Achermann, JC, Romoli, R, Spada, A, Mantovani, G, Persani, L, Jameson, JL, Ozisik, G, Borretta, G   +8 more
core  

Impairment of sperm motility in mice with heterozygous deletion of fibroblast growth factor receptor 1 [PDF]

Jichu yixue yu linchuang
Objective To investigate the effect of heterozygous deletion of fibroblast growth factor receptor 1 (FGFR1) on reproductive function in congenital hypogonadotropic hypogonadism (CHH).
LI Chenyang, LI Ting, WANG Xi, NIE Min, WU Xueyan, MAO Jiangfeng, HAN Qin
doaj   +1 more source

Gonadotropin treatment for male partial congenital hypogonadotropic hypogonadism in Chinese patients

Asian Journal of Andrology, 2020
Partial congenital hypogonadotropic hypogonadism (PCHH) is caused by an insufficiency in, but not a complete lack of, gonadotropin secretion. This leads to reduced testosterone production, mild testicular enlargement, and partial pubertal development. No
Ming Hao, Min Nie, Bing-Qing Yu, Yin-Jie Gao, Xi Wang, Wan-Lu Ma, Qi-Bin Huang, Rui Zhang, Jiang-Feng Mao, Xue-Yan Wu   +9 more
doaj   +1 more source

The Bidirectional Association Between MASLD and Male Hypogonadism: An Updated Meta‐Analysis

Andrology, EarlyView.
ABSTRACT Background Metabolic dysfunction‐associated steatotic liver disease (MASLD) and male hypogonadism are increasingly prevalent, metabolically interrelated conditions. Testosterone (T) deficiency has been implicated in hepatic lipid dysregulation, insulin resistance, and visceral adiposity, whereas MASLD may impair the hypothalamic–pituitary ...
Giorgia Spaggiari, Leonardo Dalla Valentina, Cristina Felicani, Filippo Gabrielli, Simonetta Lugari, Giovanni Corona, Paolo Ventura, Manuela Simoni, Fabio Nascimbeni, Daniele Santi   +9 more
wiley   +1 more source

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay [PDF]

, 1999
Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood. In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the ...
Meeks, JJ, Seminara, SB, Habiby, RL, Bick, DP, Kotlar, TJ, Gu, WX, Hindmarsh, PC, Achermann, JC, Crowley, WF, Sabacan, LP, Sherins, RJ, Layman, LC, Jameson, JL   +12 more
core  

Male Sexual and Reproductive Health in Diabetes and Obesity Pharmacotherapy: A Source‐Triangulated Counseling Map

Andrology, EarlyView.
ABSTRACT Background Drugs used for diabetes and obesity increasingly shape male sexual and reproductive counseling, but clinical studies, trial registrations, regulatory labels, and patents answer different questions. Objectives The objective is to map these sources and define what each can support when counseling men receiving metabolic drugs ...
Marek Broul, Michal Dubský, Aneta Hujová, Michaela Liegertová   +3 more
wiley   +1 more source

The Need for a Global Registry for Charting the Natural History of Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Background Although Klinefelter Syndrome (KS) represents the most common sex chromosome aneuploidy, several gaps in knowledge persist regarding optimal management of individuals with this condition. Individuals with KS can have a diverse phenotype including endocrine, neurodevelopmental, and cardiovascular manifestations.
Malika Alimussina, Joseph McElvaney, Corinna Grasemann, Jillian Bryce, Lise Aksglaede, Claudia Boettcher, Lexi Breen, Francesco Carlomagno, Sabine Hannema, Andrea M. Isidori, Inas Mazen, Anna Nordenstrom, S. Faisal Ahmed, Angela K. Lucas‐Herald   +13 more
wiley   +1 more source

Hypogonadism in Cisgender Men Living With HIV: Prevalence, Clinical and Metabolic Features

Andrology, EarlyView.
ABSTRACT Background Hypogonadism is frequently observed in men living with human immunodeficiency virus (HIV), although its prevalence, etiology, and predictors remain incompletely understood. Objective To evaluate the prevalence of hypogonadism and its association with metabolic factors in men living with HIV (MLWH), on stable antiretroviral therapy ...
Felipe Augusto Azevedo Leao, Gabriel Cabreira Nunes, Manuela Almeida Ribeiro, Luiza Costa da Fonseca, Aline Cristina Miranda Marinho Costa, Mateus Rodrigues Westin, Unai Tupinambas, Milena Maria Moreira Guimaraes, Leticia Ferreira Gontijo Silveira   +8 more
wiley   +1 more source

A Novel RNF216 Variant Causing Gordon Holmes Syndrome in Three Lithuanian Siblings

Acta Medica Lituanica
Background: Gordon Holmes syndrome (GHS) is a rare genetic disorder, usually manifesting as a broad spectrum of neurological symptoms and hypogonadotropic hypogonadism. Only a limited number of cases presenting this congenital disorder have been reported
Melita Karlonaitė, Ugnė Kanapickaitė, Romena Laukienė, Algirdas Utkus, Birutė Burnytė   +4 more
doaj   +1 more source

A Familial Case of Thauvin–Robinet–Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation

Clinical Genetics, EarlyView.
These two siblings carrying the homozygous FIBP c.412‐3_415dupCAGTTTG variant, previously identified in several Turkish families, further delineate the clinical spectrum of TROFAS. Postaxial polydactyly and an upper lip vascular malformation, observed in Patient 2, have not previously been reported in association with this syndrome.
Federica Ruscitti, Xenia Latypova, Faustine Ageorges, Antonio Vitobello, Christophe Philippe, Frédéric Tran Mau Them, Yannis Duffourd, Georges Gelwane, Cherine Benzouid, Yline Capri   +9 more
wiley   +1 more source