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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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ey0019.4-10 | New Perspectives | ESPEYB19

4.10. Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes

A Andrews , A Maharaj , E Cottrell , S Chatterjee , P Shah , L Denvir , K Dumic , A Bossowski , T Mushtaq , R Vukovic , M Didi , N Shaw , LA Metherell , MO Savage , HL Storr

J Clin Endocrinol Metab. 2021;106(11):e4716-e4733. PMID: 34136918Brief Summary: In this study, 149 children referred for suspected GH insensitivity (GHI) and short stature underwent genetic characterization through different techniques, including whole exome sequencing, targeted gene sequencing and array comparative genomic hybridization (array-CGH). Genetic alterations were identified in 80/149 subjects (54%), of which 45 were affected by GH&#1...

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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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ESPE Yearbook of Paediatric Endocrinology

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

4.10. Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes

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

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