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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Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy [PDF]
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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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
doaj +3 more sources
Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report [PDF]
Journal of the ASEAN Federation of Endocrine Societies, 2020 A 26-year-old lady presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayed puberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome.
Yee Lin Lee, Luke Toh, Fabian Yap
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Genetic architecture of self-limited delayed puberty and congenital hypogonadotropic hypogonadism [PDF]
Frontiers in Endocrinology, 2023 Distinguishing between self limited delayed puberty (SLDP) and congenital hypogonadotropic hypogonadism (CHH) may be tricky as they share clinical and biochemical characteristics. and appear to lie within the same clinical spectrum.
Silvia Federici +2 more
exaly +4 more sources
Insulin-like peptide 3 (INSL3) in congenital hypogonadotrophic hypogonadism (CHH) in boys with delayed puberty and adult men [PDF]
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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A Current Perspective on Delayed Puberty and Its Management [PDF]
JCRPEDelayed puberty is defined as the lack of development of secondary sex characteristics in childhood. Based on a review of the literature, delayed puberty can be divided into three main categories: (i) hypergonadotropic hypogonadism (congenital and ...
Ayhan Abacı, Özge Besci
doaj +3 more sources
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.
TATO', Luciano +2 more
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Delayed puberty versus hypogonadism: a challenge for the pediatrician [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2018 Constitutional delay of growth and puberty (CDGP) is the most common cause of delayed puberty (DP), is mainly found in males, and is characterized by short stature and delayed skeletal maturation.
Mauro Bozzola +5 more
doaj +5 more sources
Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism [PDF]
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
doaj +2 more sources