ESPE Abstracts (2015) 84 P-2-188

ESPE2015 Poster Category 2 Adrenals (38 abstracts)

Phosphoglucomutase-1 Deficiency Presented as Adrenal Insufficiency

Neta Loewenthal a, , Ruti Parvari b , Alon Haim a, , Judy Tavashi a, & Eli Hetshkovits a,

aPediatric Endocrinology Unit, Soroka Medical Center, Beer Sheva, Israel; bThe Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel

Background: The congenital disorders of glycosylation (CDG) are a group of genetic diseases owed to defects in the biosynthesis of glycoproteins and other glycoconjugates. Phosphoglucomutase type 1(PGM1) deficiency is classified among the CDG. Varied range of clinical manifestations recently described includes hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycaemia, myopathy, dilated cardiomyopathy, and cardiac arrest, ACTH deficiency has been reported but this finding is uncommon.

Objective and hypotheses: To report the clinical picture of seven patients with PGM 1 deficiency from a consanguineous family presented with ketotic hypoglycaemia.

Method: Medical records of the patients were reviewed for clinical details and endocrine evaluation. Whole exome sequencing (WES) was performed.

Results: Seven patients ages between 2 and 29 are included, one patient died at 13 years old when gets off the school bus. All patients have abnormal palatine structure (cleft palate, bifid uvula) and bnormal liver function 6/7 patients, 4/7 had short stature (<−2.5SD) one was diagnosed with growth hormone deficiency. Recurrent episodes of ketotic hypoglycaemia were present in 6/7 patients. Hypoglycaemic episodes have been spontaneously resolved in two of them later in life, while 3/5 patients have deteriorating adrenal function with abnormally low cortisol and ACTH levels during hypoglycaemia and subnormal response of cortisol to low dose ACTH test. Serum electrolytes were within normal range. Hydrocortisone replacement therapy improved but not entirely eliminated hypoglycaemic episodes. Pubertal development appeared normal including the older patient who fathered an affected patient. WES revealed previously described homozygous mutation c.112A>T, p.Asn38Tyr in the PGM1 gene.

Conclusion: ACTH deficiency may be a common manifestation in patients with PGM1 deficiency having recurrent hypoglycaemia.

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