BACKGROUND The simultaneous occurrence of Klinefelter Syndrome (KS) and Congenital Adrenal Hyperplasia (CAH) is an exceptional event: there are just three case reports (two children and a 51 years old man) describing males affected by both KS and 21OHD (21-hydroxylase deficiency) CAH, the first causing androgen deficiency, the latter leading to androgen excess. CASE REPORT We report the 4th c...

Having two X chromosomes and one Y chromosome (or a genotype of XXY, instead of XY) does indeed have a name ? and that name is Klinefelter syndrome! Bravo for wanting to find out more about this condition that occurs more often you might suspect. Klinefelter Syndrome ? or KS for short ? affects one out of every 500 to 1,000 baby boys of all races and ethnicities, although many people might not ...

CONTEXT Intrathoracic cystic lesions have been diagnosed in a wide variety of age groups, and the increasing use of prenatal imaging studies has allowed detection of these defects even in utero. CASE REPORT A 17-year-old pregnant woman in her second gestation, at 23 weeks of pregnancy, presented an ultrasound with evidence of a cystic anechoic image in the fet al left hemithorax. A morphologi...

The prevalence of sex chromosomal anomalies (SCA) is higher after treatment with intracytoplasmic sperm injection (ICSI) than in naturally conceived pregnancies. This finding is not only important in the debate about the genetic safety of ICSI, it also has repercussions on the design of appropriate strategies for prenatal and preimplantation diagnosis in ICSI pregnancies. We discuss here in det...

Having two X chromosomes and one Y chromosome (or a genotype of XXY, instead of XY) does indeed have a name ? and that name is Klinefelter syndrome! Bravo for wanting to find out more about this condition that occurs more often you might suspect. Klinefelter Syndrome ? or KS for short ? affects one out of every 500 to 1,000 baby boys of all races and ethnicities, although many people might not ...

Having two X chromosomes and one Y chromosome (or a genotype of XXY, instead of XY) does indeed have a name ? and that name is Klinefelter syndrome! Bravo for wanting to find out more about this condition that occurs more often you might suspect. Klinefelter Syndrome ? or KS for short ? affects one out of every 500 to 1,000 baby boys of all races and ethnicities, although many people might not ...

BACKGROUND It is unclear whether frequency of sperm aneuploidy is associated with risk of fathering children with trisomy. METHODS We recruited 36 families with a boy with Klinefelter syndrome (KS), interviewed the fathers about their exposures and medical history, received a semen sample from each father, and collected blood samples from the mother, father and child. We applied a multicolour...

Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B an...

Having two X chromosomes and one Y chromosome (or a genotype of XXY, instead of XY) does indeed have a name ? and that name is Klinefelter syndrome! Bravo for wanting to find out more about this condition that occurs more often you might suspect. Klinefelter Syndrome ? or KS for short ? affects one out of every 500 to 1,000 baby boys of all races and ethnicities, although many people might not ...