ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 9 results

ey0015.7-7 | Genetic architecture of hypogonadotropic hypogonadism and delayed puberty | ESPEYB15

7.7 Genes underlying delayed puberty

SR Howard

To read the full abstract: Mol Cell Endocrinol. 2018 May 4; S0303-7207(18)30149-7...
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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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ey0016.7-5 | Genetics of Puberty | ESPEYB16

7.5. EAP1 regulation of GnRH promoter activity is important for human pubertal timing

A Mancini , SR Howard , CP Cabrera , MR Barnes , A David , K Wehkalampi , S Heger , A Lomniczi , L Guasti , SR Ojeda , L Dunkel

To read the full abstract: Hum Mol Genet. 2019 Apr 15;28(8):1357–1368.This whole-exome study from a large cohort of familial self-limited delayed puberty identifies the first EAP1 mutations leading to reduced GnRH transcriptional activity and resulting in a phenotype of self-limited delayed-puberty.Enhanced at puberty 1 (EAP1) is a nuclear trans...
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ey0016.7-4 | Genetics of Puberty | ESPEYB16

7.4. HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes

SR Howard , R Oleari , A Poliandri , V Chantzara , A Fantin , G Ruiz-Babot , LA Metherell , CP Cabrera , MR Barnes , K Wehkalampi , L Guasti , C Ruhrberg , A Cariboni , L Dunkel

To read the full abstract: J Clin Endocrinol Metab. 2018 Sep 1;103(9):3420–3429.This whole-exome study in 67 probands and 93 relatives from a large cohort of familial delayed puberty identifies a new heterozygous HS6ST1 mutation as a novel cause of delayed puberty.The underlying pathophysiology of early and delayed puberty remains unexplained in most ...
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ey0015.7-9 | Genetic architecture of hypogonadotropic hypogonadism and delayed puberty | ESPEYB15

7.9 Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty

SR Howard , L Guasti , A Poliandri , A David , CP Cabrera , MR Barnes , K Wehkalampi , S O'Rahilly , CE Aiken , AP Coll , M Ma , D Rimmington , GSH Yeo , L Dunkel

To read the full abstract: J Clin Endocrinol Metab. 2018 Feb 1;103(2):649-659A minimum level of energy availability is required for the onset of puberty, whereas increased fat mass has been shown to be associated with precocious onset of puberty1,2. Recent genome-wide association studies have identified several loci for age at menarche also associated with obesity3-5. Whethe...
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ey0021.7-5 | Clinical Guidance and Studies | ESPEYB21

7.5. Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study

APM Canton , FR Tinano , L Guasti , LR Montenegro , F Ryan , D Shears , ME de Melo , LG Gomes , MP Piana , R Brauner , R Espino-Aguilar , A Escribano-Munoz , A Paganoni , JE Read , M Korbonits , CE Seraphim , SS Costa , AC Krepischi , AAL Jorge , A David , LR Kaisinger , KK Ong , JRB Perry , AP Abreu , UB Kaiser , J Argente , BB Mendonca , VN Brito , SR Howard , AC Latronico

Brief Summary: This international cohort study of 404 patients identified rare likely damaging variants in the gene MECP2 in patients with central precocious puberty. Translational experiments showed that GnRH neurons in mice express Mecp2.Over the last few years, several studies have provided insight into the epigenetic regulation of the onset of puberty1-3. DNA methylation, histone post-translational modifications and non-c...
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ey0015.7-8 | Genetic architecture of hypogonadotropic hypogonadism and delayed puberty | ESPEYB15

7.8 Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

D Cassatella , SR Howard , JS Acierno , C Xu , GE Papadakis , FA Santoni , AA Dwyer , S Santini , GP Sykiotis , C Chambion , J Meylan , L Marino , L Favre , J Li , X Liu , J Zhang , PM Bouloux , C Geyter , A Paepe , WS Dhillo , JM Ferrara , M Hauschild , M Lang-Muritano , JR Lemke , C Flück , A Nemeth , F Phan-Hug , D Pignatelli , V Popovic , S Pekic , R Quinton , G Szinnai , D l'Allemand , D Konrad , S Sharif , ÖT Iyidir , BJ Stevenson , H Yang , L Dunkel , N Pitteloud

To read the full abstract: Eur J Endocrinol. 2018 Apr;178(4):377-388[Comments on 7.7 and 7.8] Familial self-limited delayed puberty is highly heritable and has a clear genetic basis as described in the review written by Sasha Howard. Recent studies suggest that the genetic basis of self-limited delayed puberty is likely to be highly heteroge...
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ey0021.7-8 | Clinical Guidance and Studies | ESPEYB21

7.8. Prevalence of deleterious variants in MC3R in patients with constitutional delay of growth and puberty

K Duckett , A Williamson , JWR Kincaid , K Rainbow , LJ Corbin , HC Martin , RY Eberhardt , QQ Huang , ME Hurles , W He , R Brauner , A Delaney , L Dunkel , RP Grinspon , JE Hall , JN Hirschhorn , SR Howard , AC Latronico , AAL Jorge , K McElreavey , V Mericq , PM Merino , MR Palmert , L Plummer , RA Rey , RC Rezende , SB Seminara , K Salnikov , I Banerjee , BYH Lam , JRB Perry , NJ Timpson , P Clayton , YM Chan , KK Ong , S O'Rahilly

Brief Summary: this large patient cohort study identified an overrepresentation of functionally damaging variants in MC3R in individuals with constitutional delay of growth and puberty but not in patients with IHH.Melanocortin 3 receptor (MC3R) is a permissive signal expressed by hypothalamic kisspeptin-neurokinin B-dynorphin (KNDY) neurons. It activates puberty through the leptin-proopiomelanocortin pathway in response to nutritional signaling<...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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