Results 241 to 250 of about 85,956 (353)

Testicular dysfunction in men with primary hypothyroidism; reversal of hypogonadotrophic hypogonadism with replacement thyroxine [PDF]

, 2000
P Donnelly, Chris White
openalex   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Improved gonadal hormones levels following 6 and 12 months of anti-retroviral therapy among men living with human immunodeficiency virus infection. [PDF]

PLoS One
Iddi S, Dika H, Marwa KJ, Kidenya BR, Kalluvya SE.   +4 more
europepmc   +1 more source

Patterns of Pulsatile Pituitary Glycoprotein Secretion in Central Hypothyroidism and Hypogonadism*

, 1990
Mary H. Samuels, Kevin O. Lillehei, Bette K. Kleinschmidt‐DeMasters, John C. Stears, E. Chester Ridgway   +4 more
openalex   +1 more source

Recombinant LH in Support of Recombinant FSH in Female Hypogonadotropic Hypogonadism—Evidence of Threshold Effect [PDF]

, 2000
Louis O’Dea
openalex   +1 more source

Delayed Bone Maturation and Extended Growth Phase as Distinctive Features of 17α‐Hydroxylase/17,20‐Lyase Deficiency: A Retro‐Prospective Study of a Large Patient Cohort

Clinical Endocrinology, Volume 103, Issue 3, Page 303-310, September 2025.
ABSTRACT Introduction Worldwide, combined 17‐hydroxylase/17,20‐lyase deficiency (CYP17D) is a rare form of congenital adrenal hyperplasia, but it is the second most prevalent type in Brazil. An absence of sexual differentiation and hypergonadotropic hypogonadism arise from a reduction in the usual pattern of sex steroid formation in the adrenals and ...
Rafaela Fontenele, Flávia A. Costa‐Barbosa, Marivânia Costa‐Santos, Rafael L. Batista, Lívia M. Mermejo, Berenice B. Mendonça, Margaret de Castro, Gil Guerra‐Júnior, Claudio E. Kater, Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group (BCAHMSG)   +9 more
wiley   +1 more source

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116

American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source

Progeroid features in a patient with Malouf syndrome due to a rare LMNA variant: a case report and review of the literature. [PDF]

Arch Endocrinol Metab
Pekmezci A, Gumus AA, Korkmaz OP.
europepmc   +1 more source

Intrahypothalamic injection of a cell line secreting gonadotropin-releasing hormone results in cellular differentiation and reversal of hypogonadism in mutant mice

, 1993

openalex   +1 more source

Effects of Human Recombinant Luteinizing Hormone and Follicle-Stimulating Hormone in Patients with Acquired Hypogonadotropic Hypogonadism: Study of Sertoli and Leydig Cell Secretions and Interactions [PDF]

, 2000
Jacques Young, Béatrice Couzinet, Philippe Chanson, Sylvie Brailly, Ernest Loumaye, G Schaison   +5 more
openalex   +1 more source