Pancreatic Exocrine Aplasia, Clinical Features of Leprechaunism, and Abnormal Gonadotropin Regulation

Abstract

A female infant displaying morphological and clinical abnormalities is described. She had severe developmental delay, intrauterine growth retardation, and failure to thrive. Her features included an elfin fades, body and facial hirsuitism, buttonlike nipples and prominent clitoris and labia. Endocrinological evaluation revealed markedly elevated serum gonadotropin levels. An LHRH stimulation test showed no LH response to LHRH but a rapid and pronounced FSH response. The patient died at 13 months following a respiratory infection. Postmortem examination revealed normal pituitary histology but an unusual pancreatic histology characterized by total absence of acinar cells. This patient had features suggestive of several clinical syndromes including leprechaunism, Shwachman syndrome, and Johanson-Blizzard syndrome, none of which, was completely satisfied. It is concluded that the infant may represent an atypical case of leprechaunism or a previously undescribed syndrome.

Key Words:

• pancreatic exocrine aplasia
• gonadotropin regulation
• leprechaunism
• Johanson-Blizzard syndrome
• Shwachman syndrome