Original articleEffect of Ascertainment and Genetic Features on the Phenotype of Klinefelter Syndrome
Section snippets
Subjects
Subjects were generally referred to the pediatric endocrine clinic at Thomas Jefferson University. All subjects had postnatal karyotypes confirming the diagnosis of KS. The study was approved by the Human Studies Committee at Thomas Jefferson University and UT Southwestern Medical School. Informed consent/assent was obtained in all cases. The clinical evaluation was performed at Thomas Jefferson University, and the genetic evaluation was performed at UT Southwestern Medical School.
Anthropometric measurements
The clinical
Demographics
Our cohort included 55 boys, aged 2.0 to 14.6 years. The karyotype results included 51 boys; 47,XXY, 2 mosaic; 46,XY/47,XXY, and 2; 48,XXYY. The sample included 49 Caucasian boys, 5 African-American boys, and 1 Asian boy. 40 boys had received the diagnosis before the age of 2 years (35 for prenatal screening, 2 for hypotonia, 1 for developmental delay, and 2 for language delay). In the 35 boys in whom KS was diagnosed prenatally, 1 amniocentesis was performed for elevated alpha-fetoprotein
Discussion
This study describes the physical phenotype and hormonal and genetic findings in 55 boys with KS, aged 2 to14 years. We compared the phenotype of boys in whom the diagnosis was made prenatally through routine antenatal screening with that of boys in whom the diagnosis was made after birth, and we found no significant differences. Tall stature was observed at all ages within our cohort. Weight and BMI, on average, were also increased. There was a high prevalence of reduced penile length and
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2021, Handbook of Clinical NeurologyAndrogen treatment effects on hippocampus structure in boys with Klinefelter syndrome
2019, PsychoneuroendocrinologyCitation Excerpt :Recent new advances in routine prenatal genetic testing however have significantly improved early detection, permitting the prospective evaluation and study of the emergence of the physical and behavioral phenotype. Importantly, reports from XXY cohorts ascertained at birth have shown that reduced testicular androgen production is present in males with KS as early as infancy and early childhood (Ross et al., 2005; Stewart et al., 1986; Ratcliffe, 1982; Zeger et al., 2008). These deficiencies may have a negative impact on early brain development; androgen receptors densely populate several areas, including the CA1 subregion of the hippocampus (Frankfurt and Luine, 2015; Leranth et al., 2003) and the frontal and temporal cortices (Abdelgadir et al., 1999; Beyenburg et al., 2000; Hajszan et al., 2008; Nunez et al., 2003; Simerly et al., 1990).
Supported by grants from the National Institutes of Health (RO1NS #050597, NS050597) and Institut de Recherche Endocrinienne et Metabolique (Paris, France).