ESPE Abstracts (2014) 82 P-D-2-3-563

Endocrine Abnormalities in Phosphoglucomutase 1 Deficiency

Barbara Muekscha, Eva Moravab, Dirk Lefeberb, Hedi Claahsen-van der Grintenc & Eckhard Korscha

aDepartment of Pediatrics, Children’s Hospital, City of Cologne, Cologne, Germany; bLaboratory of Genetic, Department of Neurology, Endocrine and Metabolic Diseases, Radboud University Medical Center, Nijmegen, The Netherlands; cDepartment of Paediatric Endocrinology, Radboud University Medical Center, Nijmegen, The Netherlands

Introduction: Phosphoglucomutase 1 catalyzes the interconversion of glucose-6-phosphate and glucose-1-phosphate. Phosphoglucomutase 1 deficiency (PGM1-CDG), previously termed glycogenosis type XIV (OMIM 612934), is a rare variant of the congenital disorders of glycolysation (CDG), resulting in abnormal attachment and processing of protein linked N-glycans. We present a girl with PGM1-CDG and delayed pubertal development and review the endocrine findings of the few patients notified in the literature.

Case report: We report on a girl with PGM1D who was presented first at the age of 13;7 years with growth retardation and absence of pubertal development. She had a medical history of a cleft soft palate, malignant hyperthermia, hepatopathy, fasting hypoglycemia, myopathy and dilated cardiomyopathy. Chromosomal analysis was 46,XX, the uterus and ovaries were prepubertal on sonography, and the MRI of the brain was normal. We found the following endocrine abnormalities: hypogonadotrophic hypogonadism, low blood IGF1, cortisol, TBG, and transcortin levels, fasting hypoglycaemia and hyperinsulinism at normoglycaemia.

Review of the literature: There are only few patient with PGM1-CDG reported in the literature. As our patient, several case reports described abnormal endocrine features such as growth retardation with IGF1 and IGFBP3 around the lower range of normal, low cortisol concentrations and hypoglycaemia. Furthermore, low binding proteins like TBG and transcortin were reported. In difference to other forms of CDG, where hypergonadatrophic hypogonadism is featured, hypogonadotropic hypogonadism seems to be unique for this disease.

Conclusion: Endocrine abnormalities appear to be a consistent feature of PGM1-CDG substantially resulting in growth retardation and hypogonadotropic hypogonadism.

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