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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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ey0016.3-11 | New Genes | ESPEYB16

3.11. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

H Cangul , XH Liao , E Schoenmakers , J Kero , S Barone , P Srichomkwun , H Iwayama , EG Serra , H Saglam , E Eren , O Tarim , AK Nicholas , I Zvetkova , CA Anderson , FEK Frankl , K Boelaert , M Ojaniemi , J Jaaskelainen , K Patyra , C Lof , ED Williams , Consortium UK10K , M Soleimani , T Barrett , ER Maher , VK Chatterjee , S Refetoff , N Schoenmakers

To read the full abstract: JCI Insight. 2018 Oct 18;3(20). pii: 99631.This paper describes a new form of goitrous congenital hypothyroidism associated with mutations in the solute carrier family 26 member 7 gene (SLC26A7) in 6 unrelated families. In patients, a partial iodide organification defect (PIOD) with normal iodide uptake was observed, hence these mutations cause a new f...

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ESPE Yearbook of Paediatric Endocrinology

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

3.11. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

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