Results 61 to 70 of about 23,359 (243)

New understandings of the genetic basis of isolated idiopathic central hypogonadism [PDF]

open access: yes, 2012
Idiopathic hypogonadotropic hypogonadism is a rare disease that is characterized by delayed/absent puberty and/or infertility due to an insufficient stimulation of an otherwise normal pituitary-gonadal axis by gonadotrophin-releasing hormone (GnRH ...
Altobelli M   +66 more
core   +1 more source

An open-label clinical trial to investigate the efficacy and safety of corifollitropin alfa combined with hCG in adult men with hypogonadotropic hypogonadism [PDF]

open access: yes, 2017
Subject disposition.
Anjela Tzontcheva   +7 more
core   +4 more sources

AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome

open access: yesBiomedicines, 2021
Over the recent years, the SMCHD1 (Structural Maintenance of Chromosome flexible Hinge Domain Containing 1) chromatin-associated factor has triggered increasing interest after the identification of variants in three rare and unrelated diseases, type 2 ...
Camille Laberthonnière   +11 more
doaj   +1 more source

Slipped capital femoral epiphysis in a boy with hypogonadism

open access: yesSri Lanka Journal of Diabetes Endocrinology and Metabolism, 2012
The etiology of slipped capital femoral epiphysis (SCFE) remains uncertain. The frequent findings of growth abnormalities in affected patients lead to the hypothesis that various endocrine disorders cause this condition.
Henry N Rajaratnam   +2 more
doaj   +1 more source

Various endocrine disorders in children with t(13;14)(q10;q10) Robertsonian translocation [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism, 2013
Purpose45,XY,t(13;14)(q10;q10) karyotype can suggest infertility associated with more or less severe oligospermia in male adults. In addition, 45,XX,t(13;14)(q10;q10) karyotype carries reproductive risks such as miscarriage or infertility in female ...
Byung Ho Choi   +3 more
doaj   +1 more source

The role of Kisspeptin and its analogue in the diagnosis and treatment of reproductive disorders in humans [PDF]

open access: yes, 2021
Kisspeptin, a hypothalamic neuropeptide encoded by the KISS1 gene, is a key regulator of the hypothalamic-pituitary-gonadal (HPG) axis, by stimulating pulsatile gonadotrophin releasing hormone (GnRH) secretion.
Phylactou, Maria
core   +1 more source

Single-centre experience of testosterone therapy for boys with hypogonadism [PDF]

open access: yes, 2018
Background: Hypogonadism in boys is one of the commonest conditions encountered in paediatric endocrinology. Aims: To study variations in management in a contemporary group of boys at a single specialist centre.
Ahmed, Syed Faisal   +6 more
core   +1 more source

Visceral adiposity index and triglyceride/high-density lipoprotein cholesterol ratio in hypogonadism

open access: yesArchives of Endocrinology and Metabolism, 2017
Background Cardiometabolic risk is high in patients with hypogonadism. Visceral adiposity index (VAI) and triglyceride/high-density lipoprotein cholesterol (TG/HDL-C) ratio are the practical markers of atherosclerosis and insulin resistance and ...
Cem Haymana   +13 more
doaj   +1 more source

Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation

open access: yesJCRPE, 2019
Idiopathic hypogonadotropic hypogonadism (IHH) is a rare disease caused by defects in the secretion of gonadotropin releasing hormone (GnRH) or the action of GnRH on the pituitary gonadotrophes.
Özlem Nalbantoğlu   +5 more
doaj   +1 more source

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