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A Current Perspective on Delayed Puberty and Its Management [PDF]

JCRPE
Delayed 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

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, Xinglei Xie, Jia Geng, Xiaoling Yang, Wei Li, Yuwei Zhang   +5 more
doaj   +2 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, Yuri Aung, Vasilis Kokotsis, Kyla Ng Yin, Kausik Banerjee, Gary Butler, Gary Butler, Mehul T. Dattani, Mehul T. Dattani, Mehul T. Dattani, Paul Dimitri, Leo Dunkel, Claire Hughes, Michael McGuigan, Márta Korbonits, Márta Korbonits, George Paltoglou, Sophia Sakka, Pratik Shah, Pratik Shah, Helen L. Storr, Helen L. Storr, Ruben H. Willemsen, Sasha R. Howard, Sasha R. Howard   +24 more
doaj   +2 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, Ali Abbara, Kanyada Koysombat, Maria Phylactou, Maria Phylactou, Pei Chia Eng, Pei Chia Eng, Sophie Clarke, Sophie Clarke, Alexander N. Comninos, Alexander N. Comninos, Lisa Yang, Lisa Yang, Chioma Izzi-Engbeaya, Chioma Izzi-Engbeaya, Simon Hanassab, Simon Hanassab, Neil Smith, Channa N. Jayasena, Channa N. Jayasena, Cheng Xu, Cheng Xu, Richard Quinton, Richard Quinton, Nelly Pitteloud, Nelly Pitteloud, Gerhard Binder, Ravinder Anand-Ivell, Richard Ivell, Waljit S. Dhillo, Waljit S. Dhillo   +30 more
doaj   +2 more sources

Exposure to heavy metals, bisphenol A, and phthalates: Implications for precocious or delayed puberty. [PDF]

PLoS ONE
This 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
doaj   +2 more sources

Frequency of Delayed Puberty in Boys with Contemporary Management of Duchenne Muscular Dystrophy [PDF]

JCRPE
INTRODUCTION: 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, Melissa Denker, Jennifer Dunne, Iain Horrocks, Jane McNeilly, Shuko Joseph, Sze Choong Wong   +6 more
doaj   +2 more sources

Clinical approach to the male with delayed puberty [PDF]

Archives of Endocrinology and Metabolism
Disorders 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, Romina P. Grinspon, Sebastián Castro   +2 more
doaj   +2 more sources

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, Gerard Ruiz-Babot, Alessia David, Alessandra Mancini, Katia Mariniello, Claudia P. Cabrera, Michael R. Barnes, Leo Dunkel, Leonardo Guasti, Sasha R. Howard   +9 more
doaj   +2 more sources

Genetic Evaluation of Patients With Delayed Puberty and Congenital Hypogonadotropic Hypogonadism: Is it Worthy of Consideration? [PDF]

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, Giuseppina Rosaria Umano, Emanuele Miraglia del Giudice, Anna Grandone   +3 more
doaj   +2 more sources

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, Faris Hrvat, Giovanni Goggi, Silvia Federici, Biagio Cangiano, Biagio Cangiano, Richard Quinton, Richard Quinton, Luca Persani, Luca Persani, Marco Bonomi, Marco Bonomi   +11 more
doaj   +2 more sources