Background: Growth hormone plays a primary role in stimulating postnatal growth by way of insulin-like growth factor 1 (IGF1) which is produced in the liver in response to GH. A deficiency of GH arrests maturation during childhood, and the stature of such subjects is generally much shorter than the average stature. However, some cases of GH deficiency attain normal stature as adults.
Case presentation: A 20 years old man was referred for a further evaluation of hypogonadism. The patients medical history revealed that he was the child of healthy and unrelated parents. His father is 185 cm and his mother is 168 cm which results in a target height of 182.5 cm. He was born 36 weeks of gestational age, birth weight of 4 kg, regular school performance. During infancy, although he had a normal stature for age, his stature was short for his target height. But he subsequently continued growing and attained the stature of 186.5 cm by age 21. On admission to our hospital, his height was 183.5 cm (mean+1.57 SDS) with his upper trunk being 86 cm, arm span 190 cm, and body weight 101 kg (mean +3.39 SDS). Body mass index 29.9 kg/m2. He had central obesity, prognathism, small mouth, voice high pitched. He had no goiter. He was devoid of secondary sexual characteristics, with Tanner stage P1G1. Blood pressure was normal. His bone age corresponded to that of 14-year-old boy. Magnetic resonance scanning of the brain showed a small anterior pituitary and an ectopic neurohypophisis. He has a normal karyotype and a normal chromosomal microarray analysis. Laboratory investigations, including dynamic tests showed hormone levels consistent with severe multiple pituitary deficiency, including severe growth hormone deficiency, gonadotropin deficiency, adrenal insufficiency and central hypothyroidism. He started treatment with levothyroxine, hydrocortisone and sex steroids.
Conclusion: This is the natural history of a patient with panhypopituitarism, with tall stature. It is likely that potent growth-promoting factors, other than GH and IGF1 may have played a role in stimulating the growth.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology