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hrp0095p1-525 | Growth and Syndromes | ESPE2022

Growth Hormone IGF-1 axis and treatment with Growth Hormone in PGM1 deficiency

Auerbach Adi , H Korman Stanley , Jaron Ranit , Peled Segel Reeval , D Wexler Isaiah , Avraham Zehavi , Claire King Mary , Rosenfeld Nuphar , Levy-Lahad Ephrat , Abu-Libdeh Abdulsalam , H Zangen David , Levy- Khademi Floris

Background: Phosphoglucomutase 1 (PGM-1) deficiency is a congenital disorder of glycosylation caused by an impairment of glucose-1-phosphate and glucose-6-phosphate interconversion.The clinical phenotype of PGM1 deficiency is variable and includes several endocrine manifestations such as recurrent hypoglycemia and short stature, which may be associated with the decreased levels of growth hormone (GH), insulin like growth factor-1 (IGF1) ...

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hrp0092p1-128 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

The Novel Founder Homozygous V225M Mutation in the 17HSDB3 Gene Causes Aberrant Splicing and Severe XY-DSD

Levy-Khademi Floris , Zeligson Sharon , Klopstock Tehila , Chertin Boris , Avnon-Ziv Carmit , Renbaum Paul , Lavi Eran , Sharaf Muna , Perlman Shira , Behar Doron , Zahade Fouad , Levy-Lahad Ephrat , Zangen David , Segel Reeval

Background: Mutations in the gene HSD17B3 encoding the 17-beta hydroxysteroid dehydrogenase 3 enzyme cause testosterone insufficiency leading to XY DSD. In this study the clinical characteristics and molecular etiology of 3 new severe XY DSD cases from consanguineous families are elucidated.Clinical report: Three female patients (2 sisters and a single unrelated female) presented at ages 0.1, 8 and 0.7 years with ambiguo...

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ESPE Abstracts

Growth Hormone IGF-1 axis and treatment with Growth Hormone in PGM1 deficiency

The Novel Founder Homozygous V225M Mutation in the 17HSDB3 Gene Causes Aberrant Splicing and Severe XY-DSD

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