Clinical, endocrinological, and epigenetic features of the 46, XX male syndrome, compared with 47, XXY Klinefelter patients

E Vorona, M Zitzmann, J Gromoll… - The Journal of …, 2007 - academic.oup.com
Context: The 46, XX male syndrome represents a rare, poorly characterized form of male
hypogonadism. Objective: The objective of the study was to distinguish the 46, XX male …

Androgen Receptor CAGn Repeat Length Influences Phenotype of 47,XXY (Klinefelter) Syndrome

AR Zinn, P Ramos, FF Elder, K Kowal… - The Journal of …, 2005 - academic.oup.com
Abstract Context: Klinefelter syndrome (KS; 47, XXY karyotype and variants) is characterized
by tall stature and testicular failure, with marked variation in severity of the phenotype …

The role of the sex-determining region Y gene in the etiology of 46, XX maleness

PY Fechner, SM Marcantonio… - The Journal of …, 1993 - academic.oup.com
The condition of 46, XX maleness is characterized by testicular development in subjects who
have two X chromosomes but who lack a normal Y chromosome. Several etiologies have …

Low semen volume in 47 adolescents and adults with 47, XXY Klinefelter or 46, XX male syndrome

L Aksglaede, N Jørgensen… - … journal of andrology, 2009 - Wiley Online Library
Klinefelter syndrome is characterized by progressive testicular failure causing androgen
deficiency and azoospermia in most patients. The aim of this study was to evaluate semen …

Clinical, hormonal and cytogenetic evaluation of 46, XX males and review of the literature

B Ergun-Longmire, G Vinci, L Alonso… - Journal of Pediatric …, 2005 - degruyter.com
The main factor influencing the sex determination of an embryo is the genetic sex
determined by the presence or absence of the Y chromosome. However, some individuals …

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive

QY Wu, N Li, WW Li, TF Li, C Zhang, YX Cui, XY Xia… - BMC urology, 2014 - Springer
Background To review the possible mechanisms proposed to explain the etiology of 46, XX
sex reversal by investigating the clinical characteristics and their relationships with …

Evidence of skewed X‐chromosome inactivation in 47, XXY and 48, XXYY Klinefelter patients

Y Iitsuka, A Bock, DD Nguyen… - American journal of …, 2001 - Wiley Online Library
Abstract Klinefelter (47, XXY) syndrome occurs in approximately 1: 800 male births and
accounts for about 10‐20% of males attending infertility clinics. Recent studies have shown …

Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA‐sequences

C Boucekkine, JE Toublanc, N Abbas… - Clinical …, 1994 - Wiley Online Library
OBJECTIVE Testicular differentiation can occur in the absence of the Y chromosome giving
XX sex‐reversed males. Although Y chromosomal sequences can be detected in the …

Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome

AM Wikström, JN Painter, T Raivio… - Clinical …, 2006 - Wiley Online Library
Objective To investigate how genetic features of the X chromosome influence growth,
pubertal development and testicular degeneration in adolescent boys with Klinefelter …

47, XXY Klinefelter syndrome: clinical characteristics and age‐specific recommendations for medical management

L Aksglaede, K Link, A Giwercman… - American Journal of …, 2013 - Wiley Online Library
Abstract 47, XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and
affects approximately one in 660 newborn boys. The syndrome is characterized by varying …