ISSN 1306-0015 | E-ISSN 1308-6278
Case Report
A case of Donohue syndrome “Leprechaunism” with a novel mutation in the insulin receptor gene
1 Osmangazi University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Eskişehir, Turkey  
2 Osmangazi University, Faculty of Medicine, Department of Pediatrics, Division of General Pediatrics, Eskişehir, Turkey  
3 Osmangazi University, Faculty of Medicine, Department of Pediatrics, Division of Neonatalogy, Eskişehir, Turkey  
Turk Pediatri Ars 2017; 52: 226-230
DOI: 10.5152/TurkPediatriArs.2017.3193
Key Words: Donohue syndrome, hyperandrogenism, hyperinsulinism, insulin receptor, insulin resistance, newborn
Abstract

Donohue syndrome (Leprechaunism) is characterized by severe insulin resistance, hyperinsulinemia, postprandial hyperglycemia, preprandial hypoglycemia, intrauterine and postnatal growth retardation, dysmorphic findings, and clinical and laboratory findings of hyperandrogenemia due to homozygous or compound heterozygous inactivating mutations in the insulin receptor gene. A female newborn presented with lack of subcutaneous fat tissue, bilateral simian creases, hypertrichosis, especially on her face, gingival hypertrophy, cliteromegaly, and prominent nipples. Her laboratory tests revealed hyperandrogenism, postprandial hyperglycemia and preprandial hypoglycemia, and very high concurrent insulin levels. She was diagnosed as having Donohue syndrome. Metformin and continuous nasogastric feeding were administrated. During follow-up, relatively good glycemic control was obtained. However, severe hypertrophic obstructive cardiomyopathy and severe malnutrition developed. She died aged 75 days of severe heart failure and pneumonia. Her INSR gene analysis revealed a compound heterozygous mutation. One of these mutations was a p.R813 (c.2437C>T) mutation, which was defined previously and shown also in her father, the other mutation was a novel p.777-790delVAAFPNTSSTSVPT mutation, also shown in her mother. The parents were heterozygous for these mutations.

 

 

Cite this article as: Kirel B, Bozdağ Ö, Köşger P, Durmuş Aydoğdu S, Alıncak E, Tekin N. A case of Donohue syndrome “Leprechaunism” with a novel mutation in the insulin receptor gene. Turk Pediatri Ars 2017; 52: 226-30.

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