ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2022

7. Puberty

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: 34930920 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...

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. Summary: This study investigates the role of Whole Exome Sequencing in the differential diagnosis of delayed puberty, evaluating a geno...

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: 34010394 Summary: This prospective interventional study evaluates the stimulation of inhibin B by exogenous FSH as a promising predictor of spontaneous ...

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: 34160619 Summary: This cross-sectional study of 355 girls with Central Precocious Puberty (CPP) evaluates t...

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: 35119461 Summary: This study describes the correlation between...

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: 34942182 Summary: This study evaluates the efficacy and safety of GnRH analogue treatment with Central Precocious Puberty (CPP) for patients under 2 y...