Turner’s syndrome

Human growth hormone, used as a human pharmaceutical, is approved for only one indication in the United States, treatment of growth failure owing to hGH deficiency, a condition known as pituitary dwarfism. However, clinical trials are under way to test its efficacy in Turner s syndrome, bums, wound healing, cachexia, osteoporosis, constitutional growth delay, aging, malnutrition, and obesity. 

Turner s Syndrome. Turner s syndrome is a genetic disorder of females characterized by short stature, nonfunctioning ovaries, and failure to develop secondary sexual characteristics. Several clinical trials in the United States, Europe, and Japan have demonstrated that hGH can accelerate... 

Ovaries Turner s syndrome Gonadal dysgenesis Premature ovarian failure Chemotherapy/radiation Lack of ovarian follicles Other genetic anomalies Early loss of follicles Gonadal toxins... 

Nutropin AQ Schwartz Pharma AG Growth failure, Turner s syndrome... 

Aneuploidy in live births and abortions arises from aneuploid gametes during germ cell meiosis. Trisomy or monosomy of large chromosomes leads to early embryonic death. Trisomy of the smaller chromosomes allows survival but is detrimental to the health of an affected person, for example, Down s syndrome (trisomy 21), Patau syndrome (trisomy 13) and Edward s syndrome (trisomy 18). Sex chromosome trisomies (Klinefelter s and XXX syndromes) and the sex chromosome monosomy (XO), known as Turner s syndrome, are also compatible with survival. 

Detection of chromosome fragments. Individuals with Turner s syndrome are, in some cases, mosaic for a portion of or for the entire Y chromosome (46,XY/45,X). Since such individuals may be at increased risk for gonadal tumors, Southern blot or PCR analysis has been used to detect the presence of Y chromosome segments in studies of DNA from peripheral blood samples. Similarly, the fetal sex as well as the presence of some aneuploid states (e.g., trisomy 18) can be determined by analysis of DNA from chorionic villi or amniotic fluid cells. 

Turner s Syndrome Instead of the XX female sex chromosome, female sufferers have only one X chromosome. Most fetuses do not survive. Those born are infertile and carry congenital defects in heart, kidney, and thyroid. 

Turner s syndrome is a genetic defect that affects females (sufferers carry only one of the usual two X chromosomes). These individuals are infertile, often show developmental defects, mental retardation and short stature. Virtually all clinical trials involving Turner s syndrome patients confirm that administration of GH significantly increases growth velocity, indicating its therapeutic usefulness in these cases. 

An increased rate of chromosomal abnormalities has been reported for adult-onset schizophrenia (Karayiorgou and Gogos, 1997 Bassett et al., 2000). Cytogenetic abnormalities have been examined in the NIMH COS cohort. Five of our initial 54 patients had cytogenetic abnormalities (a girl with Turner s syndrome, a boy with a balanced translocation of chromosomes 1... 

G. Other applications According to Micromedex, adolescents (as well as children) with Turner s syndrome have benefited from Protropin. It may be useful as well for children with growth retardation secondary to renal failure. The effectiveness of growth hormone for children with constitutional short stature has not been adequately determined. 

Established indications for somatropin (growth hormone) include growth hormone deficiency in children, Turner s syndrome, Noonan s syndrome, and renal insufficiency in children. Other well-studied indications include idiopathic short stature, adult growth hormone deficiency, osteoporosis, and catabolic states associated with acute and chronic illness and injury. Body composition, respiratory muscle function, physical strength, and height improved in a 12-month trial of somatropin in 54 children with Prader-Willi syndrome (1). 

A 13-month-old girl with Turner s syndrome developed mild papilledema (29). At the age of 4 years she was considered for growth hormone therapy and investigation showed intracranial hypertension before therapy was started. 

A 6-year-old girl with Turner s syndrome was treated with growth hormone. There was no papilledema before therapy, but intracranial hypertension was diagnosed at the age of 10 years (29). 

An 11-year-old girl with Turner s syndrome developed unilateral neovascularization after receiving somatropin for 22 months. 

Bala P, McKiernan J, Gardiner C, O Connor G, Murray A. Turner s syndrome and benign intracranial hypertension with or without growth hormone treatment. J Ped Endocrinol Metab 2004 17 1243 1. 

Immunogenicity over long-term treatment 304 G H deficiency and 91 with Turner s syndrome —54 months ELISA 3% GH-deficient patients generated Abs within 3-12 months (subsequently declined). No patient with Turner s syndrome generated detectable Abs... 

In terms of pharmacological management, often little can be done for those with an abnormality in the hypothalamic-pituitary-gonad axis. In some patients hormone replacement is required, and in patients with Turner s syndrome in vitro fertilization and hormone therapy can be offered. 

DEFICIENCY in childhood (e.g., in Turner s syndrome) results in failure to develop secondary female sex characteristics. In the adult, loss of menstruation results, as may occur following menopause or removal of the ovaries. 

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