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ea0099p120 | Pituitary and Neuroendocrinology | ECE2024

Approaching the reality of restoring GH secretion and growth with the investigative oral growth hormone secretagogue (GHS) LUM-201 in moderate pediatric growth hormone deficiency (PGHD)

Clayton Peter , Cassorla Fernando , Trial Group OraGrowtH210 , Trial Group OraGrowtH212 , Johnson Michael , Bruchey Aleksandra , Smith Christopher , Brincks Erik , ' Duke' Pitukcheewanot Pisit , McKew John , Thorner Michael

Over 40 years ago, the first enkephalin analogs that stimulated growth hormone (GH) release were synthesized in 1984, leading to the development of GHRP-6. In 1995, Merck developed a potent non-peptide orally active long-acting growth hormone GHS, ibutamoren, and cloned the GHS receptor in 1996, which led to ghrelin being identified as its natural ligand in 1999. These discoveries uncovered a new physiological pathway for GH regulation linking the GI tract and the hypothalamic...

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ea0044oc1.5 | Early Career Oral Communications | SFEBES2016

A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes

Iacovazzo Donato , Flanagan Sarah E. , Walker Emily , Caswell Richard , Brandle Michael , Johnson Matthew , Wakeling Matthew , Guo Min , Dang Mary N. , Gabrovska Plamena , Niederle Bruno , Christ Emanuel , Jenni Stefan , Sipos Bence , Nieser Maike , Frilling Andrea , Dhatariya Ketan , Chanson Philippe , de Herder Wouter , Konukiewitz Bjorn , Kloppel Gunter , Stein Roland , Ellard Sian , Korbonits Marta

Introduction: Insulinomatosis is a rare disorder characterised by persistent hyperinsulinaemic hypoglycaemia (PHH) due to the occurrence of multifocal pancreatic insulinomas. This condition, whose pathogenesis is unknown, can occur in a familial setting. Paradoxically, while some family members develop PHH, others develop diabetes mellitus.Methods: We have identified a family with autosomal dominant familial insulinomatosis and diabetes. Exome sequencing...

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Endocrine Abstracts

Approaching the reality of restoring GH secretion and growth with the investigative oral growth hormone secretagogue (GHS) LUM-201 in moderate pediatric growth hormone deficiency (PGHD)

A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes

BiosciAbstracts