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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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ey0017.2-2 | Neonatal Hypoglycaemia | ESPEYB17

2.2. Diazoxide-induced pulmonary hypertension in hyperinsulinaemic hypoglycaemia: Recommendations from a multi-centre study in the United Kingdom

SC Chen , A Dastamani , D Pintus , D Yau , S Aftab , L Bath , C Swinburne , L Hunter , A Giardini , G Christov , S Senniappan , I Banerjee , MG Shaikh , P Shah

To read the full abstract: Clin Endocrinol (Oxf). 2019 Dec;91(6):770775. PMID: 31520536Diazoxide is the first line treatment for patients with hyperinsulinaemic hypoglycaemia (HH). The vast majority of patients tolerate diazoxide well without any major complications. However, diazoxide is known to cause several side effects including hypertrichosis, neutropaenia, thrombocytop...

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ey0017.13-3 | Advocacy, History and Society | ESPEYB17

13.3. Effective coverage measurement in maternal, newborn, child, and adolescent health and nutrition: Progress, future prospects, and implications for quality health systems

AD Marsh , M Muzigaba , T Diaz , J Requejo , D Jackson , D Chou , J Cresswell A , R Guthold , A Moran C , K Strong L , A Banerjee , A Soucat

To read the full abstract: Lancet Glob Health 2020; 8: e73036. doi: 10.1016/S2214-109X(20)30104-2 Sustainable Development Goals (SDG) were adopted by United Nations Member States in 2015. Universal health coverage is at the centre of SDG #3 but lacks metrics that make it possible to assess how effective the provided healthcare is. WHO and UNICEF convened a group of ...

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ey0015.2-5 | Atypical forms of congenital hyperinsulinism are associated with increased expression of the transcription factor NKX2.2 and increased numbers of somatostain secreting cells | ESPEYB15

Atypical forms of congenital hyperinsulinism are associated with increased expression of the transcription factor NKX2.2 and increased numbers of somatostain secreting cells

B Han , Z Mohamed , MS Estebanez , RJ Craigie , M Newbould , E Cheesman , R Padidela , M Skae , M Johnson , S Flanagan , S Ellard , KE Cosgrove , I Banerjee , MJ Dunne

To read the full abstract: J Clin Endocrinol Metab. 2017 Sep 1;102(9):3261-3267At a histological level congenital hyperinsulinism (CHI) is classified into three forms, namely diffuse, focal and atypical. The atypical forms display histological mosacism (heterogeneous populations of islets, which appear to be resting or quiescent and localized to particular domains/lobes of the pancreas) but the m...

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ey0020.6-12 | New Paradigms | ESPEYB20

6.12. Regulatory mechanisms of microRNAs in endocrine disorders and their therapeutic potential

SJ Ledesma-Pacheco , AG Uriostegui-Pena , E Rodriguez-Jacinto , E Gomez-Hernandez , C Estrada-Meza , A Banerjee , S Pathak , LM Ruiz-Manriquez , AK Duttaroy , S Paul

Brief summary: This study summarises the involvement of specific miRNAs in diabetes mellitus, thyroid diseases, osteoporosis, pituitary tumours, Cushings disease, adrenal insufficiency and multiple endocrine neoplasias. Furthermore, the potential of miRNA as candidates for developing novel diagnostic and therapeutic tools is also discussed.Endocrine disorders are common worldwide and represent a considerable public health problem due to long ...

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ey0020.13-8 | Section | ESPEYB20

13.8. Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

MN Wakeling , NDL Owens , JR Hopkinson , MB Johnson , JAL Houghton , A Dastamani , CS Flaxman , RC Wyatt , TI Hewat , JJ Hopkins , TW Laver , R van Heugten , MN Weedon , E De Franco , KA Patel , S Ellard , NG Morgan , E Cheesman , I Banerjee , AT Hattersley , MJ Dunne , International Congenital Hyperinsulinism Consortium , SJ Richardson , SE Flanagan

In Brief: The authors performed whole genome sequencing on 135 patients with congenital hyperinsulinaemia (CHI) who had negative genetic testing for previously known CHI genes. They identified nine different non-coding de novo variants (carried by 14 probands) located in a regulatory region of HK1 intron 2 that co-segregated with disease in families.Comment: HK1 is a disallowed gene in the liver and pancreatic beta cells. Th...

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ESPE Yearbook of Paediatric Endocrinology

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

2.2. Diazoxide-induced pulmonary hypertension in hyperinsulinaemic hypoglycaemia: Recommendations from a multi-centre study in the United Kingdom

13.3. Effective coverage measurement in maternal, newborn, child, and adolescent health and nutrition: Progress, future prospects, and implications for quality health systems

Atypical forms of congenital hyperinsulinism are associated with increased expression of the transcription factor NKX2.2 and increased numbers of somatostain secreting cells

6.12. Regulatory mechanisms of microRNAs in endocrine disorders and their therapeutic potential

13.8. Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

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