Clinical Guidance

ey0019.7-1 | Clinical Guidance | ESPEYB19

7.1. Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty

T Saengkaew , G Ruiz-Babot , A David , A Mancini , K Mariniello , CP Cabrera , MR Barnes , L Dunkel , L Guasti , SR Howard

NPJ Genom Med. 2021 Dec 20;6(1):107. doi: 10.1038/s41525-021-00274-w. PMID: 34930920https://www.nature.com/articles/s41525-021-00274-wBrief Summary: This cross-sectional study describes the genetic data of a cohort of patients with self-limited delayed puberty, finding a high prevalence of CCDC141 gene mutations. Usi...

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ey0019.7-2 | Clinical Guidance | ESPEYB19

7.2. Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty

T Saengkaew , HR Patel , K Banerjee , G Butler , MT Dattani , M McGuigan , HL Storr , RH Willemsen , L Dunkel , SR Howard

Eur J Endocrinol. 2021 Oct 8;185(5):617-627. doi: 10.1530/EJE-21-0387. PMID: 34403359. https://eje.bioscientifica.com/view/journals/eje/185/5/EJE-21-0387.xmlBrief Summary: This study investigates the role of Whole Exome Sequencing in the differential diagnosis of delayed puberty, evaluating a geno...

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ey0019.7-3 | Clinical Guidance | ESPEYB19

7.3. FSH-stimulated inhibin b (FSH-iB): a novel marker for the accurate prediction of pubertal outcome in delayed puberty

S Chaudhary , R Walia , A Bhansali , D Dayal , N Sachdeva , T Singh , SK Bhadada

J Clin Endocrinol Metab. 2021 Aug 18;106(9):e3495-e3505. doi: 10.1210/clinem/dgab357. PMID: 34010394https://academic.oup.com/jcem/article-abstract/106/9/e3495/6278376Brief Summary: This prospective interventional study evaluates the stimulation of inhibin B by exogenous FSH as a promising predictor of spontaneous ...

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ey0019.7-4 | Clinical Guidance | ESPEYB19

7.4. The use of morning urinary gonadotropins and sex hormones in the management of early puberty in chinese girls

S Zhan , K Huang , W Wu , D Zhang , A Liu , RM Dorazio , J Shi , R Ullah , L Zhang , J Wang , G Dong , Y Ni , J Fu

J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4520-e4530. doi: 10.1210/clinem/dgab448. Erratum in: J Clin Endocrinol Metab. 2021 Nov 15;: PMID: 34160619https://academic.oup.com/jcem/article/106/11/e4520/6308284Brief Summary: This cross-sectional study of 355 girls with Central Precocious Puberty (CPP) evaluates t...

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ey0019.7-5 | Clinical Guidance | ESPEYB19

7.5. Analysis of early-life growth and age at pubertal onset in US children

IM Aris , W Perng , D Dabelea , JM Ganiban , C Liu , K Marceau , OC Robertson , CW Hockett , NL Mihalopoulos , X Kong , MM Herting , TM O'Shea , ET Jensen , MF Hivert , E Oken

Program Collaborators for Environmental Influences on Child Health OutcomesJAMA Netw Open. 2022 Feb 1;5(2):e2146873. doi: 10.1001/jamanetworkopen.2021.46873. PMID: 35119461https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2788643/Brief Summary: This study describes the correlation between...

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ey0019.7-6 | Clinical Guidance | ESPEYB19

7.6. Gonadotropin-releasing hormone analogs for treatment of central precocious puberty in children less than 2 years of age

A Gohil , EA Eugster

J Pediatr. 2021 Dec 20:S0022-3476(21)01236-1. doi: 10.1016/j.jpeds.2021.12.030. PMID: 34942182https://www.sciencedirect.com/science/article/pii/S0022347621012361Brief Summary: This study evaluates the efficacy and safety of GnRH analogue treatment with Central Precocious Puberty (CPP) for patients under 2 y...

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ESPE Yearbook of Paediatric Endocrinology

Yearbook of Paediatric Endocrinology 2022

7. Puberty

7.1. Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty

7.2. Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty

7.3. FSH-stimulated inhibin b (FSH-iB): a novel marker for the accurate prediction of pubertal outcome in delayed puberty

7.4. The use of morning urinary gonadotropins and sex hormones in the management of early puberty in chinese girls

7.5. Analysis of early-life growth and age at pubertal onset in US children

7.6. Gonadotropin-releasing hormone analogs for treatment of central precocious puberty in children less than 2 years of age

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