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hrp0092p2-152 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Congenital Hyperinsulinism due to Compound Heterozygous Mutations in ABCC8 Fully Responsive to Diazoxide Therapy

Taylor-Miller Tashunka , Deshpande Ruma , Burren Christine P , Munyard Paul , Giri Dinesh

Background: Congenital Hyperinsulinism (CHI), a condition characterised by dysregulation of insulin secretion from the pancreatic beta cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycaemia in the newborn period. Mutations in ABCC8 and KCNJ11 constitute the majority of genetic forms of CHI. Biallelic inactivating mutations (homozygous or compound heterozygous) in ABCC8 and KCNJ11 are know...

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hrp0092p2-253 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Complexities of Diagnosis in 17-Beta-Hydroxysteroid Dehydrogenase Deficiency and Implementation of Next Generation Sequencing in Guiding Management Decisions – Case Series of Six Patients

Taylor-Miller Tashunka , Barton John S , Burren Christine P , Woodward Mark , Alderson Julie , Crowne Elizabeth C

17-beta-hydroxysteroid dehydrogenase (17-beta-HSD3) deficiency is an autosomal recessive 46XY disorder of sex development (DSD), which results in impaired gonadal androstenedione conversion to testosterone. The phenotype ranges from female to ambiguous genitalia, with wolffian-duct structures and testes. HCG stimulation tests assess testosterone biosynthesis, though biochemical results in confirmed 17-beta-HSD3 deficiency may overlap with gonadal dysgenesis making diagnosis ch...

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ESPE Abstracts

Congenital Hyperinsulinism due to Compound Heterozygous Mutations in ABCC8 Fully Responsive to Diazoxide Therapy

Complexities of Diagnosis in 17-Beta-Hydroxysteroid Dehydrogenase Deficiency and Implementation of Next Generation Sequencing in Guiding Management Decisions – Case Series of Six Patients

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