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 Howard, Howard Sasha R
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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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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
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Exposure to heavy metals, bisphenol A, and phthalates: Implications for precocious or delayed puberty. [PDF]
PLoS ONEThis study examined the associations between exposure to heavy metals, bisphenol A (BPA), and phthalates and precocious or delayed puberty. This study was a cross-sectional study using the data obtained from the Korea Environmental Exposure and Health ...
Seung-Ah Choe, Eunjung Kim, Mina Ha
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Frequency of Delayed Puberty in Boys with Contemporary Management of Duchenne Muscular Dystrophy [PDF]
JCRPEINTRODUCTION: Delayed puberty is thought to be common in boys with Duchenne muscular dystrophy (DMD) treated with long term oral glucocorticoid. The aim of this study was to report the frequency of delayed puberty in DMD from examination by a paediatric ...
Sarah McCarrison +6 more
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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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Clinical approach to the male with delayed puberty [PDF]
Archives of Endocrinology and MetabolismDisorders of pubertal onset and progression are a common cause for referral to paediatric endocrinologists, with delayed puberty in males being particularly frequent. Pubertal development depends on the hypothalamic-pituitary-testicular (HPT) axis, which
Rodolfo A. Rey +2 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
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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.
Valeria Vezzoli +11 more
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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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