Turner syndrome Archives - Revista Brasileira de Ginecologia e Obstetrícia
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2010;32(8):381-385
DOI 10.1590/S0100-72032010000800004
PURPOSE: to examine the association between cytogenetic characteristics and clinical and epidemiological changes in patients with Turner syndrome (TS). METHODS: Forty-two patients were included. Data were collected using a standardized questionnaire in interviews conducted with the responsible person and, when possible, with the patient. A detailed physical examination was performed. The association between karyotype, stigmata and clinical disorders were examined using the χ2 test. RESULTS: Sixty-four percent of TS patients were 45,X; 26,2% 45,X/46,X;7% 45,X/46Xi(Xq), and 2,3% 45,X/46,X,Del(Xq). Regardless of the karyotype, all patients had short stature. Low hair implantation was more frequent in patients with 45,X (p=0.03). Cardiovascular abnormalities (45%), otitis (43%), thyroid dysfunction (33%) and hypertension (26.6%) were the most frequent clinical disorders, but without correlation with the karyotype. Anthropometric measurements revealed a positive linear correlation of waist and hip circumference with age (r=0.9, p=0.01). Thirty-one patients (74%) were using or had previously used growth hormone (43%), sex steroids (30%), thyroxine (11.9%) or oxandrolone (9.5%). Comparison between gestational age at birth and learning difficulties showed a prevalence ratio of 1.71 (p>0.05). CONCLUSION: Low hair implantation is the most prevalent stigma in patients with a 45,X karyotype and the most common clinical changes were cardiovascular problems, otitis, thyroid dysfunction and hypertension; however, they did not show any correlation with the karyotype.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2010;32(8):381-385
DOI 10.1590/S0100-72032010000800004
PURPOSE: to examine the association between cytogenetic characteristics and clinical and epidemiological changes in patients with Turner syndrome (TS). METHODS: Forty-two patients were included. Data were collected using a standardized questionnaire in interviews conducted with the responsible person and, when possible, with the patient. A detailed physical examination was performed. The association between karyotype, stigmata and clinical disorders were examined using the χ2 test. RESULTS: Sixty-four percent of TS patients were 45,X; 26,2% 45,X/46,X;7% 45,X/46Xi(Xq), and 2,3% 45,X/46,X,Del(Xq). Regardless of the karyotype, all patients had short stature. Low hair implantation was more frequent in patients with 45,X (p=0.03). Cardiovascular abnormalities (45%), otitis (43%), thyroid dysfunction (33%) and hypertension (26.6%) were the most frequent clinical disorders, but without correlation with the karyotype. Anthropometric measurements revealed a positive linear correlation of waist and hip circumference with age (r=0.9, p=0.01). Thirty-one patients (74%) were using or had previously used growth hormone (43%), sex steroids (30%), thyroxine (11.9%) or oxandrolone (9.5%). Comparison between gestational age at birth and learning difficulties showed a prevalence ratio of 1.71 (p>0.05). CONCLUSION: Low hair implantation is the most prevalent stigma in patients with a 45,X karyotype and the most common clinical changes were cardiovascular problems, otitis, thyroid dysfunction and hypertension; however, they did not show any correlation with the karyotype.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2008;30(10):511-517
DOI 10.1590/S0100-72032008001000006
PURPOSE: to correlate the clinical manifestations of patients with amenorrhea and X chromosome abnormalities. METHODS: a retrospective analysis of the clinical and laboratorial findings of patients with amenorrhea and abnormalities of X chromosome, attended between January 1975 and November 2007 was performed. Their anthropometric measures were evaluated through standard growth tables, and, when present, minor and major anomalies were noted. The chromosomal study was performed through the GTG banded karyotype. RESULTS: from the total of 141 patients with amenorrhea, 16% presented numerical and 13% structural abnormalities of X chromosome. From these patients with X chromosome abnormalities (n=41), 35 had a complete clinical description. All presented hypergonadotrophic hypogonadism. Primary amenorrhea was observed in 24 patients, 91.7% of them with a Turner syndrome phenotype. Despite a case with Xq22-q28 deletion, all patients with this phenotype presented alterations involving Xp (one case with an additional cell lineage 46,XY). The two remaining patients with only primary amenorrhea had proximal deletions of Xq. Among the 11 patients with secondary amenorrhea, 54.5% presented a Turner phenotype (all with isolated or mosaic X chromosome monosomy). Patients with phenotype of isolated ovarian failure had only Xq deletions and X trisomy. CONCLUSIONS: the cytogenetic analysis must always be performed in women with ovarian failure of unknown cause, even in the absence of clinical dysmorphic features. This analysis is also extremely relevant in syndromic patients, because it can either confirm the diagnosis or identify patients in risk, like the cases involving a 46,XY lineage.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2008;30(10):511-517
DOI 10.1590/S0100-72032008001000006
PURPOSE: to correlate the clinical manifestations of patients with amenorrhea and X chromosome abnormalities. METHODS: a retrospective analysis of the clinical and laboratorial findings of patients with amenorrhea and abnormalities of X chromosome, attended between January 1975 and November 2007 was performed. Their anthropometric measures were evaluated through standard growth tables, and, when present, minor and major anomalies were noted. The chromosomal study was performed through the GTG banded karyotype. RESULTS: from the total of 141 patients with amenorrhea, 16% presented numerical and 13% structural abnormalities of X chromosome. From these patients with X chromosome abnormalities (n=41), 35 had a complete clinical description. All presented hypergonadotrophic hypogonadism. Primary amenorrhea was observed in 24 patients, 91.7% of them with a Turner syndrome phenotype. Despite a case with Xq22-q28 deletion, all patients with this phenotype presented alterations involving Xp (one case with an additional cell lineage 46,XY). The two remaining patients with only primary amenorrhea had proximal deletions of Xq. Among the 11 patients with secondary amenorrhea, 54.5% presented a Turner phenotype (all with isolated or mosaic X chromosome monosomy). Patients with phenotype of isolated ovarian failure had only Xq deletions and X trisomy. CONCLUSIONS: the cytogenetic analysis must always be performed in women with ovarian failure of unknown cause, even in the absence of clinical dysmorphic features. This analysis is also extremely relevant in syndromic patients, because it can either confirm the diagnosis or identify patients in risk, like the cases involving a 46,XY lineage.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 1998;20(5):283-287
DOI 10.1590/S0100-72031998000500008
Turner syndrome and its complications, hydrops and cystic hygroma, can produce alterations in maternal serum biochemical markers used in screening for Down's syndrome and neural tube defects (NTD). The authors report the case of a 37-year-old pregnant woman, screened for Down's syndrome and NTD in the second trimester of pregnancy. The maternal serum alpha-fetoprotein (MSAFP) level was increased and the test was considered screen positive for NTD. A three-dimensional ultrasound investigation was performed, but no fetal or placental anomalies were found, indicating a case of unexplained increased msafp. In the third trimester severe oligohydramnios and disturbances in uteroplacental arterial circulation developed, requiring corticosteroid therapy and premature cesarean section at the 34th week of gestation. The female newborn was transferred to a neonatal ICU and tetralogy of Fallot and Turner syndrome were diagnosed. This case prompted the authors to review the literature on maternal serum biochemical markers in Turner syndrome and congenital heart defects and to propose a protocol for unexplained increased MSAFP.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 1998;20(5):283-287
DOI 10.1590/S0100-72031998000500008
Turner syndrome and its complications, hydrops and cystic hygroma, can produce alterations in maternal serum biochemical markers used in screening for Down's syndrome and neural tube defects (NTD). The authors report the case of a 37-year-old pregnant woman, screened for Down's syndrome and NTD in the second trimester of pregnancy. The maternal serum alpha-fetoprotein (MSAFP) level was increased and the test was considered screen positive for NTD. A three-dimensional ultrasound investigation was performed, but no fetal or placental anomalies were found, indicating a case of unexplained increased msafp. In the third trimester severe oligohydramnios and disturbances in uteroplacental arterial circulation developed, requiring corticosteroid therapy and premature cesarean section at the 34th week of gestation. The female newborn was transferred to a neonatal ICU and tetralogy of Fallot and Turner syndrome were diagnosed. This case prompted the authors to review the literature on maternal serum biochemical markers in Turner syndrome and congenital heart defects and to propose a protocol for unexplained increased MSAFP.