ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 6 results

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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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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ey0015.8-14 | New Hope | ESPEYB15

8.14 Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

G Ruiz-Babot , M Balyura , I Hadjidemetriou , SJ Ajodha , DR Taylor , L Ghataore , NF Taylor , U Schubert , CG Ziegler , HL Storr , MR Druce , EF Gevers , WM Drake , U Srirangalingam , GS Conway , PJ King , LA Metherell , SR Bornstein , L Guasti

To read the full abstract: Cell Rep. 2018; 22(5): 1236-1249Primary or secondary adrenal insufficiency (AI) results from adrenal failure or impairment of the hypothalamic-pituitary axis, respectively. The most frequent cause of primary AI is autosomal recessive congenital adrenal hyperplasia (CAH). Patients with AI need life-long treatment with exogenous steroids, which can be challenging, ...
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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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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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