Variable X-linked recessive hypopituitarism with evidence of gonadotropin deficiency in two pre-pubertal males

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Abstract
Two half-brothers with short stature secondary to growth hormone [GH] deficiency and a family history implicating X-linked transmission were studied extensively for other endocrine abnormalities. The proband had a normal physical examination, except for small stature and small external genitalia. ACTH [adrenocorticotropic hormone] and TSH [thyroid stimulating hormone] release were normal. LH [luteinizing hormone] and FSH [follicle stimulating hormone] responses during an i.v. GnRH [gonadotropin releasing hormone] test were severely blunted. His half-brother also had a normal physical examination, except for severe short stature and very small external genitalia. Deficiencies of ACTH, TSH and GH were documented. An i.v. GnRH test showed no LH or FSH response. These studies support the existence of an X-linked recessive form of hypopituitarism and portend the clinical usefulness of the i.v. GnRH test in evaluating gonadotropin reserve.