The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome
Summary
The purposes of this study are to learn whether treatment with an androgen type hormone will improve the visual-spatial problems associated with Turner syndrome, and to evaluate the effect growth hormone, with and without androgen, has on growth.
Description
Turner syndrome is associated with short stature, multiple physical stigmata, absent pubertal development, and increased learning problems. This study is designed to (1) examine the effects of sex steroids (androgen and estrogen) on multiple variables including growth rate, GH binding protein, IGF-I, IGFBP3, and cognitive function in the setting of supplemental growth hormone administration and (2) to investigate any synergistic or additive effects of the androgen and estrogen combination versus each alone, on the above variables.
Study Design
Allocation: Randomized, Intervention Model: Parallel Assignment, Masking: Double Blind (Subject, Caregiver, Investigator), Primary Purpose: Treatment
Conditions
Turner Syndrome
Intervention
estrogen, androgen, placebo
Location
National Institutes of Health
Bethesda
Maryland
United States
20892
Status
Active, not recruiting
Source
Thomas Jefferson University
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT00029159
- Information obtained from ClinicalTrials.gov on July 15, 2010
Published on BioPortfolio: 2014-07-23T21:55:11-0400
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PubMed Articles
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Monosomy of the X chromosome is the most frequent genetic abnormality in human as it is present in approximately 2% of all conceptions, although 99% of these embryos are spontaneously miscarried. In p...
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Medical and Biotech [MESH] Definitions
Androgen-insensitivity Syndrome
A familial form of PSEUDOHERMAPHRODITISM transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.
Turner Syndrome
A syndrome of defective gonadal development in phenotypic women with a karyotype of sex chromosome monosomy (45,X or 45,XO), associated with the loss of a sex chromosome X or Y. Patients generally are of short stature with undifferentiated (streak) gonads, sexual infantilism (HYPOGONADISM), webbing of the neck, cubitus valgus, elevated GONADOTROPINS and decreased ESTRADIOL level in blood. Studies of Turner Syndrome and its variants have contributed significantly to the understanding of SEX DIFFERENTIATION. NOONAN SYNDROME bears similarity to this disorder; however, it also occurs in males, has normal karyotype, and is inherited as an autosomal dominant.
Noonan Syndrome
A multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of MENTAL RETARDATION. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. However, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY). NS1 is due to mutations at chromosome location 12q24.1, in PTPN11, a gene encoding PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
Androgen Receptor Antagonists
Compounds that bind to and inhibit the activation of ANDROGEN RECEPTORS.
Estrogen Receptor Alpha
One of the ESTROGEN RECEPTORS that has marked affinity for ESTRADIOL. Its expression and function differs from, and in some ways opposes, ESTROGEN RECEPTOR BETA.
