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Long-Term Growth Hormone Therapy in Adulthood Results in Significant Linear Growth in Siblings with a PROP-1 Gene Mutation

Department of Medicine/Endocrinology (J.K.L., Y.-S.Z., J.J.C., L.-Q.C., J.I.-M.), Weill Medical College of Cornell University, New York, New York 10021; and Universidad Nacional Pedro Henriquez Ureña (I.L., C.H.), Santo Domingo, Dominican Republic

Address all correspondence and requests for reprints to: Dr. Julianne Imperato-McGinley, Department of Medicine/Endocrinology, Weill Medical College of Cornell University, 1300 York Avenue, Box 149, New York, New York 10021. E-mail: jimperat{at}med.cornell.edu.

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.