Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation.
PROP-1 gene mutations result in impaired production of GH, gonadotropins, TSH, and prolactin. We describe three adult siblings, aged 18-25 yr, with short stature, hypothyroidism, and lack of pubertal maturation, who were homozygous for 301-302delAG PROP-1 mutation. We had the unique opportunity to treat them in adulthood with GH for 4-5 yr and thyroid replacement before sex steroid replacement. Sibling 1, a female, had a chronological age (CA) of 25 yr 8 months, a bone age (BA) of 12.5 yr, and height of 128.7 cm [-5.29 sd score (SDS)]; sibling 2, a younger sister had a CA of 22 yr 5 months, a BA of 13 yr, and height of 137.5 cm (-3.94 SDS); and sibling 3, a male, had a CA of 18 yr 4 months, a BA of 11.5 yr, and height of 127.5 cm (-6.38 SDS). Despite delay in treatment and fairly advanced BA, all responded to GH and thyroid hormone therapy with a dramatic increase in linear growth: 22.3 cm for sibling 1, 22 cm for sibling 2, and 34.5 cm for sibling 3. After sex hormone replacement, siblings 1, 2, and 3 grew another 2.6, 3, and 9.5 cm to final heights of 153.6, 162.5, and 171.5 cm, respectively. In conclusion, the substantial linear growth in adult siblings with a PROP-1 mutation illustrates that despite an advanced BA, linear growth potential remains in adulthood in the setting of sex steroid deficiency.
Department of Medicine/Endocrinology, Weill Medical College of Cornell University, 1300 York Avenue, Box 149, New York, New York 10021, USA.
Judy K
JK
Lee
Yuan-Shan
YS
Zhu
Juan J
JJ
Cordero
Li-Qun
LQ
Cai
Iluminada
I
Labour
Cecilia
C
Herrera
Julianne
J
Imperato-McGinley
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001827:Body Height / Q000187:drug effects; D004393:Dwarfism, Pituitary / Q000188:drug therapy* / Q000235:genetics*; D005192:Family Health; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D019382:Human Growth Hormone / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D010375:Pedigree; D035781:Siblings
D018398:Homeodomain Proteins; C102134:Prophet of Pit-1 protein; D019382:Human Growth Hormone