Tall stature without growth hormone: four male patients with aromatase deficiency

J Clin Endocrinol Metab. 2010 Apr;95(4):1626-33. doi: 10.1210/jc.2009-1743. Epub 2010 Feb 17.

Abstract

Context: From preliminary observations, GH-IGF-I seems to be compromised in men with aromatase deficiency. The GH deficiency (GHD) coexists paradoxically with tall stature, raising the question whether or not a true GHD is part of this rare syndrome.

Objective: To evaluate the GH secretion in aromatase-deficient men, their GH response to the GHRH plus arginine (GHRH-ARG) test was compared with that of normal subjects. The effect of estrogen replacement treatment on the GH-IGF-I axis in aromatase-deficient men was evaluated before and during therapy.

Design and setting: A case-control study was conducted.

Patients: Four adult men with aromatase deficiency were compared with 12 normal subjects.

Main outcome measures: We measured the GH response to GHRH-ARG in aromatase-deficient men (at baseline and during estrogen treatment) and in normal subjects. Basal serum IGF-I was measured in both patients and controls.

Results: The response of GH to GHRH-ARG was severely impaired in men with aromatase deficiency and resulted in significantly lower (P < 0.001) levels than in normal subjects. Although normal, serum IGF-I levels were also significantly lower (P < 0.001) than in normal subjects. Both GH peak and IGF-I concentrations were not modified by estrogen therapy in men with aromatase deficiency.

Conclusions: In aromatase-deficient men, GH response to potent provocative stimuli is impaired and is not restored by exogenous estrogens. Furthermore, a tall stature may be reached, notwithstanding the coexistence of GHD, if a prolonged time for growth is available due to a delay in bone maturation, and other growth factors different from GH (mainly insulin) promote growth.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Arginine
  • Aromatase / deficiency*
  • Aromatase / genetics
  • Blood Glucose / metabolism
  • Body Height / genetics
  • Body Height / physiology*
  • Body Mass Index
  • Bone Development / genetics
  • Bone Development / physiology
  • Case-Control Studies
  • Estradiol / blood
  • Estrogen Replacement Therapy
  • Estrogens / pharmacology
  • Growth Plate / drug effects
  • Growth Plate / growth & development
  • Human Growth Hormone / metabolism*
  • Humans
  • Insulin / blood
  • Insulin-Like Growth Factor I / metabolism
  • Male
  • Prolactin / blood
  • Recombinant Proteins
  • Testosterone / deficiency

Substances

  • Blood Glucose
  • Estrogens
  • Insulin
  • Recombinant Proteins
  • Human Growth Hormone
  • Testosterone
  • Estradiol
  • Insulin-Like Growth Factor I
  • Prolactin
  • Arginine
  • Aromatase