ABSTRACT
When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan syndrome, androgen or estrogen deficiency, testicular feminization, and sex chromosome anomaly, such as Klinefelter syndrome and XYY syndrome. Men with 47,XYY syndrome can exhibit multiple phenotypes. A 13-year-old boy visited the hospital for evaluation of tall stature. The boy had no other physical abnormalities except tall stature. All biochemical and imaging studies were within the normal ranges. He was diagnosed with XYY syndrome in this chromosome study. When evaluating men with tall stature, XYY syndrome should be ruled out.
Subject(s)
Adolescent , Adult , Humans , Male , Androgen-Insensitivity Syndrome , Estrogens , Growth Disorders , Growth Hormone , Klinefelter Syndrome , Marfan Syndrome , Phenotype , Reference Values , Sex Chromosome Disorders , Sex ChromosomesABSTRACT
47,XYY males are found in approximately 1 per 1,000 men. There is no significant difference in intelligence compared with a normal karyotype group. 47,XYY males are fertile and are considered to be relatively tall in stature owing to the increased growth velocity during the earliest childhood. It has been known that 47,XYY males are usually quite normally developed at birth with normal birth weight and length without any physical abnormalities. We have experienced a case of 47,XYY male with increased nuchal fold thickness, choroid plexus cyst and limb anomaly and we report the case with brief review of the literature. A 31-year-old woman, who had terminated her first pregnancy due to limb anomaly at 24 weeks gestation, received ultrasonography at about 16 weeks gestation and was found having a fetus with increased nuchal fold, choroid plexus cyst and limb anomaly. Through the genetic counselling, her pregnancy was terminated and the chromosome karyotyping was performed with the fetal tissue and parent's peripheral blood. The results revealed that the parents had normal karyotypes, but the karyotype of the fetus showed 47,XYY.
Subject(s)
Adult , Female , Humans , Male , Pregnancy , Birth Weight , Choroid Plexus , Choroid , Extremities , Fetus , Intelligence , Karyotype , Karyotyping , Nuchal Translucency Measurement , Parents , Parturition , UltrasonographyABSTRACT
45X/47XYY mosaicism is a very rare sex chromosomal disorder with limited clinical information. We experienced an unusual mosaic syndrome in a 16-year old woman with a phenotypic female, short stature, and immature secondary sexual characteristics. We performed both gonadectomy and found a gonadoblastoma in one gonad and dysgerminoma in another gonad.
Subject(s)
Adolescent , Female , Humans , Chromosome Disorders , Dysgerminoma , Gonadoblastoma , Gonads , MosaicismABSTRACT
A 35-year-old multigravida woman received triple marker screening tests in 16weeks 2days of gestation. MSAFP and MShCG values were increased, whereas MSuE3 value was decreased. So we performed amniocentesis for karyotyping and confirmed male fetus with 47,XYY,inv(9)(p11:q13). A neonatal survey showed the incidence of XYY male to be approximately 1:1000, the majority of cases are phenotypically normal. XYY males are taller than normal and show delayed mental development. A pericenteric inversion of chromosome 9 that extends from p11 to q13 is considered a normal chromosome variant, but the carrier is at high risk to produce abnormal offspring. As she did not want to terminate her pregnancy, she delivered vaginally in 39weeks 6days of gestation. As a result of physical examination, the neonate showed a normal phenotype. We report it with brief review.
Subject(s)
Adult , Female , Humans , Infant, Newborn , Male , Pregnancy , Amniocentesis , Chromosomes, Human, Pair 9 , Fetus , Incidence , Karyotyping , Mass Screening , Phenotype , Physical ExaminationABSTRACT
47,XYY is a rare sex chromosomal disorder. Approximately 1.45 per 1,000 live births have on XYY chromosome pattern. The extra Y chromosome is paternal in origin and RESULTS: from nondisjunction in the second meiotic division. Although the phenotype is normal on the newborn, an increased incidence of minor anomalies has been reported. Recently, a 37-year-old primigravid woman received amniocentesis at 17 weeks gestation at a private clinic and was diagnosed as having a fetus with 47,XYY. We performed amniocentesis again at 20 weeks of pregnancy and confirmed fetal karyotype to be 47,XYY using the conventional cytogenetics and fluorescence in situ hybridization (FISH) techniques. As she did not want to terminate her pregnancy, she was put under antenatal care but ended up in vaginal delivery in 40 weeks. As a result of physical examination, the neonate showed a normal phenotype except for a mild hypospadia and a simian crease.
Subject(s)
Adult , Child , Female , Humans , Infant, Newborn , Male , Pregnancy , Amniocentesis , Chromosome Disorders , Cytogenetics , Fetus , Fluorescence , Hypospadias , In Situ Hybridization , Incidence , Karyotype , Live Birth , Phenotype , Physical Examination , Pregnancy Trimester, Second , Prenatal Diagnosis , Y ChromosomeABSTRACT
45,X/47,XYY mosaicism is a rare sex chromosomal disorder with clinical information limited to 25 cases in the literature. We report an unusual mosaic Turner syndrome case in a 35-year old Korean woman with a phenotypic female, primary amenorrhea, short stature, immature secondary sexual characteristics. Cytogenetic analysis including G- and Q-banding revealed 45,X/47,XYY mosaicism, and SRY gene was demonstrated by polymerase chain reaction(PCR). Prophylactic bilateral gonadectomy was performed because the presence of Y-chromosomal sequences in Turner stigmata may predispose this patient to gonadoblastoma formation.