No description available.

No description available.

Short stature is the most ubiquitous feature of Turner syndrome (TS). Today, many girls with TS are treated with recombinant human growth hormone (GH) to accelerate growth in childhood and to improve adult height. Here, we will review the history of our understanding of growth in TS, reflect on the path of clinical trials ultimately leading to regulatory approval for clinical use of GH, discuss factors associated with growth outcomes and survey the current unanswered questions about growth and GH in TS.

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

Síndrome de Turner é causada por alterações no cromossomo X. Afeta de 1:2000 a 1:3000 recém-nascidas femininas. Apesar de ser uma doença genética, aspectos como crescimento deficiente e insuficiência ovariana são de interesse da Endocrinologia. Manifestações clínicas importantes também incluem malformações cardíacas, linfáticas e renais e estão implicadas em maior morbidade da doença. Muito embora já tenha sido descrita há quase 80 anos, novos aspectos genéticos relacionados à etiopatogenia da doença vem sendo descritos. As abordagens terapêuticas relativas aos tratamentos hormonais têm sido discutidas e novos diagnósticos clínicos, incluindo alterações cardíacas, hepáticas e casos de trombose vem sendo descritos recentemente. / Turner Syndrome is caused by X chromosome anomalies. It affects 1:2000 to 1:3000 live born females. Some aspects of the syndrome such as growth failure and ovarian failure are of interest to the Endocrinologist. Other important features of this disorder include cardiac, lymphatic and renal malformations, the cause of high morbidity. Although recognized and described for almost 80 years, new genetic information has been added to update the understanding of the etiopathogenesis of the disorder. Hormone therapies and novel clinical findings, cardiac, hepatic and thrombotic, recently described, are reviewed.

Síndrome de Turner é causada por alterações no cromossomo X. Afeta de 1:2000 a 1:3000 recém-nascidas femininas. Apesar de ser uma doença genética, aspectos como crescimento deficiente e insuficiência ovariana são de interesse da Endocrinologia. Manifestações clínicas importantes também incluem malformações cardíacas, linfáticas e renais e estão implicadas em maior morbidade da doença. Muito embora já tenha sido descrita há quase 80 anos, novos aspectos genéticos relacionados à etiopatogenia da doença vem sendo descritos. As abordagens terapêuticas relativas aos tratamentos hormonais têm sido discutidas e novos diagnósticos clínicos, incluindo alterações cardíacas, hepáticas e casos de trombose vem sendo descritos recentemente. / Turner Syndrome is caused by X chromosome anomalies. It affects 1:2000 to 1:3000 live born females. Some aspects of the syndrome such as growth failure and ovarian failure are of interest to the Endocrinologist. Other important features of this disorder include cardiac, lymphatic and renal malformations, the cause of high morbidity. Although recognized and described for almost 80 years, new genetic information has been added to update the understanding of the etiopathogenesis of the disorder. Hormone therapies and novel clinical findings, cardiac, hepatic and thrombotic, recently described, are reviewed.

Síndrome de Turner é causada por alterações no cromossomo X. Afeta de 1:2000 a 1:3000 recém-nascidas femininas. Apesar de ser uma doença genética, aspectos como crescimento deficiente e insuficiência ovariana são de interesse da Endocrinologia. Manifestações clínicas importantes também incluem malformações cardíacas, linfáticas e renais e estão implicadas em maior morbidade da doença. Muito embora já tenha sido descrita há quase 80 anos, novos aspectos genéticos relacionados à etiopatogenia da doença vem sendo descritos. As abordagens terapêuticas relativas aos tratamentos hormonais têm sido discutidas e novos diagnósticos clínicos, incluindo alterações cardíacas, hepáticas e casos de trombose vem sendo descritos recentemente. / Turner Syndrome is caused by X chromosome anomalies. It affects 1:2000 to 1:3000 live born females. Some aspects of the syndrome such as growth failure and ovarian failure are of interest to the Endocrinologist. Other important features of this disorder include cardiac, lymphatic and renal malformations, the cause of high morbidity. Although recognized and described for almost 80 years, new genetic information has been added to update the understanding of the etiopathogenesis of the disorder. Hormone therapies and novel clinical findings, cardiac, hepatic and thrombotic, recently described, are reviewed.

Abstract The aim of this study was to define distinct craniofacial features in subjects with nonsyndromic cleft lip and palate (CLP) and in subjects with Turner syndrome (TS), and to evaluate the resemblance of these features among their family members. This might help in elucidating if there is a parental contribution to possible predisposing craniofacial features in cleft subjects and to the severity of certain distinct craniofacial features in subjects with X chromosome monosomy. The study population consisted of 29 Costa Rican CLP families including unaffected parents and siblings, and of 71 TS (45,X) subjects and members of their families. Based on lateral and frontal cephalometric analyses, cleft family members were characterized by reduced cranial height and head width, greater interorbital and nasal cavity widths, shorter anterior cranial base and palatal lengths, and shorter total face height compared to control values. With respect to these distinct craniofacial features, there were statistically significant associations in anterior cranial base and palatal length, and head, forehead and outer interorbital width measurements between parents and their children with CLP. The sidedness of the cleft in affected children was related to the asymmetry of the nasal cavity width in their parents. The distinct craniofacial features of the TS subjects, such as short clivus, retrognathic position of mandible, and narrow maxilla at the level of first premolars were related to their mothers' corresponding features. The presence of lateral palatine ridges, which were detected in one third of the TS subjects, was related to the narrowness of the posterior palate rather than to the variation in the tongue position. Distinct craniofacial features segregate in cleft family members. The several significant associations in distinct craniofacial dimensions between parents and children with CLP emphasize the importance of genetic factors in the genesis of nonsyndromic orofacial clefting. The present results support the concept that maternal factors contribute to the degree of deficiency in the growth of the cranial base and to the magnitude of mandibular retrognathism of their daughters with TS. Maternal influences may also modify the width of the palate in TS.

No description available.

Darbo tikslas buvo nustatyti Ternerio sindromo fenotipo ryšį su nustatyta chromosomine konstitucija ir jo įtaką šeiminei homeostazei. TS paplitimas, dažnis ir ligonių amžius diagnozavimo metu iki šiol nebuvo aprašytas mūsų tirtoje populiacijoje. KMU biologijos katedros citogenetikos laboratorijoje buvo ištirti kariotipai 1271 asmeniui, kuriam galima buvo įtarti TS: naujagimiai su įgimtomis sklaidos ydomis; mergaitės su fizinio vystymosi atsilikimais; mergaitės su brendimo atsilikimu; moterys su pirmine amenorėja; moterys su antrine amenorėja; moterys, tirtos dėl persileidimų ir nevaisingumo. Kariotipo pakitimai, būdingi TS, diagnozuoti 236 asmenims (18,6 proc.). Išskirti trys pagrindiniai kariotipo pakitimų variantai ir įvertinta, ar vienoda jų įtaka fenotipui. Tirta, ar yra skirtumas šių ligonių grupių fenotipe pagal tirtuosius parametrus: nėštumo trukmę, naujagimių kūno ilgį ir svorį, mergaičių ūgį ir svorį iki 18 metų amžiaus, tėvų amžių gimstant vaikui, sibsų amžių, paciento, kuriam įtariamas TS, amžių kariotipo tyrimo metu. Ištirta ir aprašyta keletas retų chromosomų disbalanso variantų. Nustatyta, kad monosominiai ligoniai dažniau vienintelę X chromosomą paveldi iš motinos (80,5 proc.), negu iš tėvo. Pirmą kartą atliktas šeiminis daugiaveiksniškai paveldimų požymių tyrimas (elektrokardiogramos ir gliukozės toleravimo mėginys) ne tik probandams, sergantiems TS, bet ir jų pirmosios eilės giminėms. Lietuvoje bent pusė TS atvejų lieka neatpažinti, todėl, siekiant kuo... [toliau žr. visą tekstą] / The aim of this study is to evaluate the link of chromosome constitution in Turner syndrome and in disruption of familial homeostasis. The distribution and incidence of TS in population nor the age of patients at the moment of diagnosis were not described previously. Cytogenetical laboratory at the Department of biology has investigated karyotypes for 1271. The number of abnormal karyotypes found is 236 (18.6%). We divided the patients into three groups according to logical, in our opinion, changes in their karyotypes. The aim of our research was to find out, if there were significant differences in phenotypes within those groups. Such traits were chosen for the comparison: the duration of pregnancy, length and weight of newborns, height and weight of the girls under 18 years old, the age of parents at birth of propositus, the age of the siblings, and the age at which TS was diagnosed for the patient. We predicted, that in a case of complete 45,X monosomy the clinical manifestation of the syndrome should be more severe, and this group of patients would differ from other karyological groups. We have found that in 80.5% of cases X chromosome had the maternal origin and in the rest 19.5% – paternal. To investigate the multifactorially inherited traits (electrocardiograms and glucose tolerance test) in relatives of Turner syndrome patients. We suggest that for the earlier diagnosis of TS, it is reasonable to investigate all girls, whose height is less than 3rd percentile.