Leprechaunism syndrome E34.8

Donohue, 1948

Autosomal recessive complex malformation syndrome with anomaly of the female external genitals, exophthalmos (frequent), failure to thrive (very frequent), gynecomastia (very frequent), hyperglycaemia/non-insulin-dependent diabetes mellitus (very frequent), hyperinsulinism (very frequent), susceptibility to infection (very frequent), macropenis, Short stature, large/protruding nostrils, large/long ears, small face (faun-face), severe mental retardation, full/thick lips, excess neck skin, hypertrichosis, sunken nasal root, testicular ectopy/cryptorchidism, microcephaly, umbilical hernia, high/narrow palate, hypotonic/missing abdominal wall muscles.

Autosomal recessive mutations of the insulin receptor gene (INSR gene; gene locus: 19p13.2) with consecutive defects of the insulin receptor.

Acanthosis nigricans benigna; Acanthosis nigricans maligna; Pfaundler-Hurler disease; Scheie disease; Lawrence syndrome.

Often lethal.

1. Donohue WL (1948) Dysendocrinism. J Pediat 32: 739-748
2. Donohue WL, Uchida IA (1954) Leprechaunism: a euphuism for a rare familial disorder. J Pediat 45: 505-519
3. Hone J et al (1995) Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism. Hum mutation 6: 17-22
4. Whitehead JP et al (1998) Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome. Diabetes 47: 1362-1364