Treatment of congenital hypogonadotropic hypogonadism in male patients [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2022 Congenital hypogonadotropic hypogonadism (CHH) is characterized by complete or partial failure of pubertal development because of inadequate secretion of gonadotropic hormones.
Hae Sang Lee +2 more
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Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings
Endocrinology, Diabetes & Metabolism Case Reports, 2020 Hypogonadotropic hypogonadism is characterised by insufficient secretion of pituitary gonadotropins resulting in delayed puberty, anovulation and azoospermia. When hypogonadotropic hypogonadism occurs in the absence of structural or functional lesions of
Satyanarayana V Sagi +9 more
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New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism
Archives of Medical Science, 2020 Introduction Congenital hypogonadotropic hypogonadism results from a dysfunction of the hypothalamic-pituitary-gonadal axis, which is essential for the development and function of the reproductive system. It may be associated with anosmia, referred to as
Agnieszka Gach +13 more
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Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen–Kolk syndrome [PDF]
Frontiers in GeneticsPubertal delay can be due to hypogonadotropic hypogonadism (HH), which may occur in association with anosmia or hyposmia and is known as Kallmann syndrome (OMIM #308700).
Lourdes Correa Brito +18 more
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Endocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome [PDF]
AACE Clinical Case ReportsBackground/Objective: 4H syndrome is a rare form of leukodystrophy characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism.
Bright Nwatamole, MBBS +4 more
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Frequency of the allelic variant (Trp8Arg/Ile15Thr) of the luteinizing hormone gene in a Brazilian cohort of healthy subjects and in patients with hypogonadotropic hypogonadism [PDF]
Clinics, 2005 PURPOSE: To evaluate the frequency of allelic variant Trp8Arg/Ile15Thr in the luteinizing hormone beta-subunit gene in a Brazilian population of healthy subjects and in patients with hypogonadotropic hypogonadism.
Karina Berger +5 more
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Pituitary imaging findings in pediatric patients with idiopathic hypogonadotropic hypogonadism
Endocrine Regulations, 2023 Objective. Idiopathic hypogonadotropic hypogonadism in children is a disease leading to a puberty absence. Some hypothalamic and pituitary defects cause hypogonadotropic hypogonadism.
Bitkin Eda Celebi +2 more
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Male hypogonadotropic hypogonadism in various genetic disorders
Journal of Education, Health and Sport, 2020 Introduction and purpose: Male hypogonadism is diagnosed in patients with total testosterone under 9-12nmol/L (250-350ng/dl) in serum which is associated with numerous symptoms which can severely lower the quality of patients life.
Sylwiusz Niedobylski +6 more
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A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome
BMC Medical Genomics, 2023 Background Gordon Holmes syndrome (GHS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, cognitive decline, and cerebellar ataxia.
Nazlı Durmaz Çelik +6 more
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Syndrome of hypogonadism in males
Ожирение и метаболизм, 2014 Hypogonadism in men - a clinical and laboratory syndrome caused by decreased secretion of testosterone by the testes. Depending on the level of destruction of the hypothalamic-pituitary-gonadal axis we distinguish two main forms of hypogonadism ...
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