Epidemiological, endocrine and metabolic features in Turner syndrome

Abstract

Turner syndrome is one of the more common genetic disorders, associated with abnormalities of the X chromosome, and occurring in about 50 per 100,000 liveborn girls. Turner syndrome is usually associated with reduced adult height, gonadal dysgenesis, and thus insufficient circulating levels of female sex steroids, and infertility. A number of other signs and symptoms are seen more frequent with the syndrome. Morbidity and mortality is increased. The average intellectual performance is within the normal range. With respect to epidemiology, cardiology, endocrinology and metabolism a number of recent studies have allowed new insight. Treatment with GH during childhood and adolescence allows a considerable gain in adult height. Puberty has to be induced in most cases, and female sex hormone replacement therapy is given during adult years. The proper dose of HRT has not been established, and, likewise, benefits and/or drawbacks from HRT has not been thoroughly evaluated. Since the risk of cardiovascular and endocrinological disease is clearly elevated, proper care during adulthood is emphasized. In summary, Turner syndrome is a condition associated with a number of disease and conditions which are reviewed in present paper. RESUMO Dados Epidemiológicos, Endócrinos e Metabólicos na Síndrome de Turner.A síndrome de Turner, decorrente de anomalias dos cromossomos sexuais, é uma das doenças genéticas mais comuns, ocorrendo em cerca de 50:100.000 recém-nascidas. A síndrome de Turner está geralmente associada à baixa estatura, disgenesia gonadal e, portanto, níveis insuficientes de esteróides sexuais femininos, e esterilidade. Vários outros sinais e sintomas são observados mais freqüentemente em portadoras dessa síndrome. Há aumento da morbidade e da mortalidade. A performance intelectual costuma estar dentro da normalidade. Estudos recentes têm trazido novas informações quanto a seus aspectos epidemiológicos, cardiológicos, endócrinos e metabólicos. O tratamento com hGH na infância e na adolescência permite um ganho considerável na estatura final. A puberdade precisa ser induzida na maioria dos casos, e a terapia de reposição de hormônios sexuais femininos (TRH) persiste durante toda a vida adulta. As doses adequadas para TRH ainda não estão bem estabelecidas; do mesmo modo, seus benefícios e/ou desvantagens ainda não foram cuidadosamente avaliados. Uma vez que o risco de doenças cardiovasculares e endócrinas é claramente elevado, o cuidado adequado na vida adulta é enfatizado. Em síntese, a síndrome de Turner é uma afecção associada a diversas anomalias congênitas e adquiridas que são revisadas neste artigo.

Vorzeitiger, verspäteter und ausbleibender Pubertätsbeginn

“…Ohne entsprechende medizinische Hilfe zur Reproduktion bleiben derzeit etwa 95% aller erwachsenen Frauen mit Ullrich-Turner-Syndrom kinderlos [10,15,27]. Neuere Untersuchungen zeigten jedoch, dass bei betroffenen Adoleszenten in Gewebeproben des Ovars Primärfolli-kel gefunden werden [16].…”

IGF-I, IGFBP-3 and ALS generation test in Turner syndrome

“…The incidence of short stature in girls with a confirmed diagnosis of Turner syndrome ranges between 80% and 98% and is more common in patients with a complete deletion of one of the X chromosomes [1][2][3][4]. The average adult height achieved is around 20 cm shorter than the normal female population [1][2][3][4]. Previous studies investigating the GH axis in girls with Turner syndrome demonstrated normal growth hormone levels [5][6][7][8] or low levels in response to GHRH stimuli, mainly in 45,X girls [9].…”

“…The incidence of short stature in girls with a confirmed diagnosis of Turner syndrome ranges between 80% and 98% and is more common in patients with a complete deletion of one of the X chromosomes [1][2][3][4]. The average adult height achieved is around 20 cm shorter than the normal female population [1][2][3][4].…”

Kabuki syndrome and sex chromosomal anomalies: is it really an association?

“…Turner syndrome (TS) occurs in about 50 per 100,000 girls and is defined by a partially or completely absent X chromosome (4). The majority of patients with TS have a 45,X karyotype; in addition, short-or long-arm deletion, ring X, isochromosome, and mosaicism have been reported.…”

“…The majority of patients with TS have a 45,X karyotype; in addition, short-or long-arm deletion, ring X, isochromosome, and mosaicism have been reported. The cardinal features include growth retardation with reduced adult height with or without additional features like minor facial dysmorphism, associated anomalies, gonadal insufficiency, and infertility (4). Coarctation of the aorta is the commonest congenital heart disease both in KS and in TS.…”