Turner Syndrome and Growth

Heather J. McKnight, MSN, CRNP Short stature, while not in itself a medical condition, should alert health care providers to the possibility of a syndrome or chronic condition (Lipman & McKnight, 2000). Short stature is often overlooked, considered to be untreatable or, simply insignificant. The reality is, short stature is often treatable, even if it is a component of chronic illness or a syndrome. Short stature is a primary characteristic of Turner Syndrome. Turner Syndrome (TS) is a condition manifested in females who have only one X chromosome or a closely linked mosaic pattern of karyotype. Girls with TS have dysgenetic ovaries and will most likely be infertile. Characteristics of TS include lack of sexual maturation, webbed neck, and a wide carrying angle. A karyotype should be performed on any female child with poor growth to rule out TS. Poor growth has been identified in 95% of girls with TS (Rosenfeld et al., 1998). This growth failure may not achieve recognition, especially if the patient has a mosaic form of TS. Mosaic forms of TS lead to less noticeable manifestations of TS characteristics. A low birth weight and length may be overlooked if the syndrome has not yet been identified. Growth velocity tends to coincide with that of unaffected peers during the first 3 years of life. Girls with TS tend to demonstrate gradual growth failure compared with unaffected peers until about the age of 9 years. Age 9 appears to be when the 95th percentile of the TS growth chart and the 5th percentile of the standard 2-18 year female growth chart begin to separate (Neely & Rosenfeld, 1996). Growth hormone secretion in females with TS has been studied. Provocative growth hormone testing in children with TS reveals normal growth hormone levels (Ross, Long, Loriaux & Cutler, 1985). Growth hormone testing in adolescents shows a decrease in growth hormone along with a corresponding decline in insulin-like growth factor (IGF-1) (Cuttler, Van Vliet, Conte, Kaplan & Grumbach, 1985). It has been hypothesized that girls with TS demonstrate declining levels of growth hormone and IGF-1 during adolescence because they lack the estrogen stimulation. The documented short statue in childhood suggests that growth failure in TS is not endocrine in origin but rather an intrinsic bone defect since growth hormone levels are not deficient in childhood (Neeley & Rosenfeld, 1996). Despite the lack of proven growth hormone deficiency in children with TS, growth hormone started during childhood has been demonstrated to make a difference in adult height of women with TS (Plotnick, Attie, Blethen & Sy, 1998). Females with TS are generally 20 cm shorter than their unaffected peers (Ranke & Grauer, 1994). Retrospective data from the National Cooperative Growth Study (NCGS) experience as reported by Plotnick et al. (1998) reveals growth rates increased from 4.0+ 2.3 cm/yr before growth hormone to 7.5+2.0 cm/yr after 1 year of treatment. Data on final height present by Plotnick et al. (1998) strongly demonstrate the benefit of growth hormone for girls with TS despite their lack of growth hormone deficiency. Growth hormone has been approved for use in girls with Turner Syndrome. The best results of growth hormone treatment in girls with TS have been found if growth hormone therapy is initiated at age 6-7 years (Castigila, 1997). It is therefore imperative that females with TS be identified as promptly as possible so they may achieve the maximum benefits of growth hormone therapy. Any female with short stature must alert health care providers to the possibility of Turners Syndrome. References Castiglia, P. T. (1997). Turner syndrome. Journal of Pediatric Health Care, 11(1), 34-36. Cuttler, L., Van Viliet, G., Conte, F. A., Kaplan, S. L., & Grumbach, M. M. (1985). Somatomedin-C levels in children and adolescents with gonadal dysgenesis: Differences from age-matched normal females and effect of chronic estrogen replacement therapy. Journal of Clinical Endocrinology and Metabolism, 60,1087-1092.

Lipman, T. H. & McKnight, H. J. Children with chronic conditions: The importance of growth assessment. (in press). Nurse Practitioner Forum. Neeley, E. K., & Rosenfeld, R. G. (1996). Turner syndrome. In F. Lifshitz (ed.), Pediatric Endocrinology (pp. 267-280). New York: Marcel Dekker Inc. Plotnick, L., Attie, K. M., Blethen, S. L., & Sy, J. P. (1998). Growth hormone treatment of girls with Turner syndrome: The national cooperative growth study experience. Pediatrics, 102, 479-481. Rosenfeld, R. G., Frane, J., Attie, K. M., Brasel, J. Burstein, S. Cara, J. F., Chernausek, S., Gotlin, R. W., Kuntze, J., Lippe, B. M., Mahoney, P. C., Moore, W. V., Saenger P., & Johanson, A. J. (1992). Sixyear results of a randomized prospective trail of human growth hormone and oxandrolone in Turner syndrome. The Journal of Pediatrics, 121(1), 49-55. Ross, L. J., Long, L, M, Loriaux, D. L. & Cutler, G. B. Growth hormone secretory dynamics in Turner syndrome. The Journal of Pediatrics, 106 (2), 202-206.