An Autopsy Case of Holoprosencephaly with Endocrine Abnormalities

Abstract

We experienced a case of holoprosencephaly associated with endocrine abnormalities. A male neonate, one of twins, was born at 36 weeks of gestation. The other twin had no abnormalities. At birth, our case weighed 2,780g, had dyspnea and was immediately intubated. He had a single nostril, ocular hypotelorism and small ophthalmus. CT scan showed a single ventricle and a large dorsal sack, which suggested the diagnosis of holoprosencephaly. He died 26 hours after birth because of respiratory failure. Autopsy was performed and semilobar type of holoprosencephaly was confirmed. The pituitary gland was completely absent. The adrenal cortex and thyroid gland exhibited severe atrophy (20% and 36% of normal size, respectively). There was no colloid formation of the thyroid gland. Bilateral testes were not descended but their sizes and histological findings were normal. The serum pituitary hormones were examined. Their values were as follows: GH 1.7ng/ml (normal: 10–40), TSH less than 1.0uU/ml (normal: 3–18), FSH 10.6 mIU/ml (normal: 0–21.5) and LH 11.3 mIU/ml (normal: 3.1–5.2). GH and TSH levels were very low, but FSH and LH showed normal values.