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Journal of Clinical Endocrinology & Metabolism, 1996 Delayed puberty can be defined as the absence of any signs of puberty in subjects that have attained an age at the upper limit (+2DS) for the onset of puberty, that means 13 years in girls and 14 years in boys. The causes of delayed puberty can be classified into three groups, functional temporary impairment in gonadotropin and sex steroid secretion ...
ANTONIAZZI, Franco +2 more
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Frontiers in Endocrinology, 2020 Delayed puberty is a common reason of pediatric endocrinological consultation. It is often a self-limited (or constitutional) condition with a strong familial basis. The type of inheritance is variable but most commonly autosomal dominant.
Adalgisa Festa +3 more
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The Genetic Basis of Delayed Puberty [PDF]
Frontiers in Endocrinology, 2019 Delayed pubertal onset has many etiologies, but on average two-thirds of patients presenting with late puberty have self-limited (or constitutional) delayed puberty. Self-limited delayed puberty often has a strong familial basis.
Sasha R. Howard
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Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty [PDF]
npj Genomic Medicine, 2021 Developmental abnormalities of the gonadotropin-releasing hormone (GnRH) neuronal network result in a range of conditions from idiopathic hypogonadotropic hypogonadism to self-limited delayed puberty.
Tansit Saengkaew +9 more
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Acta Medica Iranica, 2022 Chronic kidney diseases affect sex hormones, and thus it is now hypothesized abnormal puberty phenomenon in adolescents suffering renal failure. The primary study endpoint was to assess the frequency of disorders related to the clinical incidence of ...
Davood Amirkashani +2 more
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Children, 2023 Frasier syndrome (FS) is a rare inherited disorder characterized by gonadal dysgenesis and progressive nephropathy, resulting from mutations in the intron 9 splice donor site of the Wilms tumor 1 (WT1) gene. It is associated with male gonadal dysgenesis (
Qing Shao +5 more
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Congenital hypogonadotropic hypogonadism: from clinical characteristics to genetic aspects [PDF]
Precision and Future Medicine, 2021 Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by a deficiency in gonadotropin-releasing hormone (GnRH). CHH is characterized by delayed puberty and/or infertility; this is because GnRH is the main component of the hypothalamic ...
Ahreum Kwon, Ho-Seong Kim
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Frontiers in Endocrinology, 2022 BackgroundDelayed puberty in males is almost invariably associated with constitutional delay of growth and puberty (CDGP) or congenital hypogonadotrophic hypogonadism (CHH).
Ali Abbara +30 more
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Frontiers in Endocrinology, 2023 IntroductionDelayed puberty (DP) is a frequent concern for adolescents. The most common underlying aetiology is self-limited DP (SLDP). However, this can be difficult to differentiate from the more severe condition congenital hypogonadotrophic ...
Yuri Aung +24 more
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Endocrine Connections, 2021 Background: Animal studies suggest that insulin-like growth factor 1 (IGF1 ) may influence the function of the hypothalamus–pituitary–testicular axis, especially in childhood, but the evidence in humans is scanty.
Rossella Cannarella +4 more
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