R E V I E W Recombinant human growth hormone in the treatment of Turner syndrome Bessie E Spiliotis Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Patras, School of Medicine, Patras, Greece Correspondence: Bessie E Spiliotis Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Patras School of Medicine, 26504 Rion, Patras, Greece Tel +30 2610 999 741 Fax +30 2610 910 869 Email besspil@endo.gr Abstract: Turner syndrome (TS) is a common chromosomal disorder in women that is associated with the absence of one of the X chromosomes. Severe short stature and a lack of pubertal development characterize TS girls, causing psychosocial problems and reduced bone mass. The growth impairment in TS seems to be due to multiple factors including an abnormal growth hormone (GH) – insulin-like growth factor (IGF) – IGF binding protein axis and haplo- insufﬁciency of the short stature homeobox-containing gene. Growth hormone and sex steroid replacement therapy has enhanced growth, pubertal development, bone mass, and the quality of life of TS girls. Recombinant human GH (hGH) has improved the height potential of TS girls with varied results though, depending upon the dose of hGH and the age of induction of puberty. The best ﬁnal adult height and peak bone mass achievement results seem to be achieved when hGH therapy is started early and puberty is induced at the normal age of puberty in a regimen mimicking physiologic puberty. The initiation of estradiol therapy at an age-appropriate time may also help the TS patients avoid osteoporosis during adulthood. Recombinant hGH therapy in TS seems to be safe. Studies so far show no adverse effects on cardiac function, glucose metabolism or any association with neoplasms but research is still in progress to provide con- clusive data on long-term safety. Keywords: Turner syndrome, recombinant growth hormone, growth hormone deﬁciency, SHOX gene, hormonal replacement therapy Introduction Turner syndrome (TS), the most common chromosomal disorder in women, results from the partial or complete absence (monosomy) of one of the X chromosomes. TS affects one in 2500 live female births and it may exist without (nonmosaic form) or with the presence (mosaic form) of a normal 46 XX or, rarely, a 46XY cell line. Abnormalities such as ring X and Xq isochromosomes are common in patients with classic TS features and many of these girls have phenotypes indistinguishable from those of girls with nonmosaic monosomy X. A variety of physical characteristics are present in TS. Short stature, ovarian dysgenesis and ovarian failure are the most prevalent abnormaliites. Streak gonads in TS are common and the girls with TS usually do not show any signs of breast development. Some girls with TS though have spontaneous puberty and manifest normal breast development. Other physical features of TS include facial dysmorphism with low-set ears, webbed neck, short neck, low-set hair-line, “shield chest” with an increased distance between the pre-pubertal breasts, cardiovascular defects, cubitus valgus, renal malformations, hearing loss and lymphedema (Nielsen and Wohlert 1991). Cognitive deﬁcits involved with nonverbal learning abilities and visuospatial skills and behavioral problems may also be present in TS (Rovet 2004). Girls with TS many times manifest only very subtle physical features of TS of which short stature is the most prominent, even from a young age. Therefore, it is recommended that all girls with short stature and/or growth delay for which no medical Therapeutics and Clinical Risk Management 2008:4(6) 1177–1183 © 2008 Dove Medical Press Limited. All rights reserved 1177