A 43-year-old male with untreated panhypopituitarism due to absence of the pituitary stalk: from dwarf to giant.

[aromatase deficiency]

A 43 -yr -old male was referred because of an x-ray made after a fall , which showed open epiphysis of the arm . The man had always been short for his age ; during childhood he once consulted a pediatrician because of short stature , but thereafter he never sought medical attention . At age 18 yr he was not allowed to join the army because of his height of 147 cm . He continued to grow steadily and finally reached 193 cm . He had no complaints and considered himself reasonably fit . Physical examination showed a disproportional man with a body mass index of 29 .3 kg /m (2 ) and Tanner stage P 1 G 1 . Laboratory investigations showed hormone levels consistent with multiple pituitary deficiency , with dynamic tests consistent with hypothalamic or pituitary stalk disease . Magnetic resonance scanning of the brain showed a small anterior pituitary remnant , no pituitary stalk , and an ectopic neurohypophysis . This case of untreated panhypopituitarism shows a particular growth curve with an average growth velocity of 2 cm /yr , resembling patients with estrogen receptor mutation or aromatase deficiency . A literature study of other adult patients with untreated panhypopituitarism shows a variable growth pattern . Some speculations about possible reasons for this variability in clinical characteristics are presented .

Diseases
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Diseases presenting "stage p1" symptom

aromatase deficiency

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