Congenital hypopituitarism as part of suprasellar dysplasia. A case report.

ABSTRACT

Congenital hypopituitarism may be due to hypothalamic failure. The case presented below belonged to this category. In addition, the demonstration of absent septum pellucidum placed this case in the category of suprasellar dysplasia. The patient was 21 years old, with primary amenorrhea and lack of development of secondary sex characteristics. The laboratory findings confirmed the diagnosis of hypothyroidism, hypocortisolism, hypogonadotropism, hyperprolactinemia and normal growth hormone. Stimulation studies revealed a subnormal response of cortisol to adrenocorticotrophic hormone stimulation, subnormal response of follicle stimulating hormone and luteinizing hormone to gonadotropin releasing hormone stimulation, normal response of prolactin to thyrotropin releasing hormone stimulation and exaggerated response of thyroid stimulating hormone to thyrotropin releasing hormone stimulation. The patient was treated with thyroid supplementation. Magnetic resonance imaging showed a hypoplastic infundibulum, ectopic neurohypophysis, small anterior pituitary gland and absent septum pellucidum. Congenital hypopituitarism may be part of a large spectrum of midline brain abnormalities.