A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone
This study is a multicenter, open-label, observational, postmarketing surveillance study of Genentech growth hormone (GH) products in the treatment of girls with Turner syndrome in the United States and Canada.
Observational Model: Cohort, Time Perspective: Prospective
Active, not recruiting
Results (where available)
- Source: http://clinicaltrials.gov/show/NCT00097552
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
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.
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).
A number of syndromes with defective gonadal developments such as streak gonads and dysgenetic testes. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.
22q11 Deletion Syndrome
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
Diabetes is more frequent in women with Turner syndrome. The purpose of this study is to see, in what ways the glucose metabolism is different in this study population. The hypothesis is t...
Several studies have demonstrated that Turner Syndrome patients have elevated liver enzymes readily suppressible by a short course of HRT. We wanted to estimated quantitative liver functio...
In the literature, cases of thrombosis in the venous system have been described in girls and women with Turner syndrome. By screening a group of women with Turner syndrome, the researchers...
This study investigated the effect of growth hormone on the growth of infants and toddlers with Turner syndrome during 2 years of treatment with growth hormone. This was compared with the...
A randomized, controlled trial in girls with Turner syndrome at least 7 years old and younger than 13 at study entry, to determine the efficacy and safety of Humatrope (somatropin) treatme...
Girls and women with Turner syndrome are at risk for aortic dissection and rupture. However, the size of the aorta and the clinical characteristics among those with Turner syndrome and dissection have...
Turner syndrome is the most common chromosomal abnormality in female subjects, affecting 1 in 2000 live births. The condition is associated with a generalized vasculopathy as well as congenital cardia...
This report describes 2 symptomatic patients with phrenic nerve palsy due to Parsonage-Turner syndrome who were managed by diaphragmatic plication. The characteristics of the underlying syndrome are d...
Abstract We report on a patient who initially presented with delayed puberty and an absent uterus on imaging with ultrasound and MRI. She was subsequently diagnosed with Turner Syndrome. Turner Syndro...
Short stature and ovarian failure are characteristic features of Turner's syndrome. Although recombinant human growth hormone is commonly used to treat the short stature associated with this syndrome,...