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ea0039ep72 | Gonadal, DSD and reproduction | BSPED2015

The role of a next generation sequencing panel in the diagnostic pathway in disorders of sex development

Webb Emma A , Saraff Vrinda , Hughes Lowri , Allen S , Cole Tim , Dattani M T , Hughes I A , Kirk J M W , Fews G , Krone N P

Background: Accurate genetic diagnosis is essential in disorders of sex development (DSD), guiding medical management and enabling optimal personalized care delivery.Case presentation: Two siblings (I and II) with a family history of 17β-hydroxysteroid dehydroxygenase (17β-HSD3) deficiency presented postnatally with isolated labial swelling. Karyotype was 46,XY and urinary steroid profile (USP) normal. HCG-stimulated testosterone/androstenedion...

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ePoster

ea0024oc1.5 | Oral Communications 1 | BSPED2010

Factors affecting changes in insulin sensitivity and insulin secretion during Growth Hormone treatment in children born small for gestational age

Thankamony A , Jensen R B , O'Connell S , Kirk J M W , Donaldson M D C , Ivarsson Sten-A , Soder O , Hoey H , Juul A , Dunger D B

Background: Individuals born Small for Gestational age (SGA) are at high risk of development of type 2 diabetes. Growth hormone (GH) therapy can also adversely affect glucose metabolism.Aim: To explore the factors associated with changes in insulin sensitivity (IS) and insulin secretion during one year of GH treatment in children born SGA.Methods: In the NESGAS clinical trial, we studied 82 (55♂) pre-pubertal children (age 3....

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Endocrine Abstracts

The role of a next generation sequencing panel in the diagnostic pathway in disorders of sex development

Factors affecting changes in insulin sensitivity and insulin secretion during Growth Hormone treatment in children born small for gestational age

BiosciAbstracts