科研之友
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摘要
Introduction. Leprechaunism is a rare autosomal recessive condition characterized by dysmorhic features, growth failure and disordered glucose homeostasis. %26lt;br%26gt;Case report. A term infant was born to a first cousin, who previously lost a baby with Leprechaunism. Pregnancy and delivery were uneventful. Birth weight, length and head circumference were all below the third centile. Clinical examination at birth reveals large low set ears, depressed nasal bridge, gingival hyperplasia, prominent nipples, umbilical hernia, lipodystrophy, hypertrichosis, and wrinkled loose skin. Examination of the genitalia showed a prominent phallus, posterior fusion of the labioscrotal folds and no palpable gonads. A clinical diagnosis of Leprechaunism was made based on the family history and the clinical phenotype. In addition to the presence of ambiguous genitalia, management of this infant was complicated by poor glycemic control with frequent hyper and hypoglycemic episodes. %26lt;br%26gt;Insulin was inappropriately high (1626.1 mU/mL, normal 3-17 Mu/mL) when glucose was relatively low (3.2 mmol/L) indicating insulin resistance. ACTH stimulation test confirmed an intact adrenal function with normal 17 hydroxyprogesterone and cortisol. Testosterone and adrenal androgens were normal. Chromosomal study showed 46 XX and MRI abdomen revealed normal pancreas and internal female organs. Accordingly, this infant was assigned as a female. %26lt;br%26gt;Severe hyper and hypoglycemic episodes responded to introduction of frequent nasogastric formula milk feeding together with insulin glargine. Glycemic control improved with glycated hemoglobin of 8%. %26lt;br%26gt;Conclusion. This case report illustrates a management challenge of a newborn infant with Leprechaunism, ambiguous genitalia and poor glycemic control and discuss treatment options.
- 出版日期2014-3
