Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers

M Cools, SLS Drop, KP Wolffenbuttel… - Endocrine …, 2006 - academic.oup.com
The risk for the development of germ cell tumors is an important factor to deal with in the
management of patients with disorders of sex development (DSD). However, this risk is often …

Turner's syndrome in adulthood

M Elsheikh, DB Dunger, GS Conway… - Endocrine …, 2002 - academic.oup.com
Turner's syndrome is the most common chromosomal abnormality in females, affecting 1:
2,500 live female births. It is a result of absence of an X chromosome or the presence of a …

Laboratory guideline for Turner syndrome

DJ Wolff, DL Van Dyke, CM Powell - Genetics in Medicine, 2010 - nature.com
Turner syndrome is a disorder that has distinct clinical features and has karyotypic
aberrations with loss of critical regions of the X chromosome. Several clinical guidelines on …

Tumor risk in disorders of sex development (DSD)

LHJ Looijenga, R Hersmus, JW Oosterhuis… - Best practice & research …, 2007 - Elsevier
Disorders of sex development (DSD), previously referred to as intersex disorders, comprise
a variety of anomalies defined by congenital conditions in which chromosomal, gonadal, or …

Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45, X/46, XY mosaicism

M Cools, J Pleskacova, H Stoop… - The Journal of …, 2011 - academic.oup.com
Context: Gonadectomy is avoided whenever possible in boys with 45, X/46, XY. However,
no clinical markers are currently available to guide clinicians in predicting gonadal tumor …

Different clinical presentations and management in complete androgen insensitivity syndrome (CAIS)

L Lanciotti, M Cofini, A Leonardi, M Bertozzi… - International journal of …, 2019 - mdpi.com
Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disorder
resulting from maternally inherited or de novo mutations involving the androgen receptor …

Y chromosome and male infertility: update, 2006

CG Krausz, S Degl'Innocenti - Frontiers in Bioscience, 2005 - flore.unifi.it
Male factor infertility accounts for about half the cases of couple infertility and in around 50%
of cases its etiology remains unknown. Molecular genetic techniques have unveiled a …

Gene polymorphisms/mutations relevant to abnormal spermatogenesis

F Nuti, C Krausz - Reproductive biomedicine online, 2008 - Elsevier
Despite the identification of an increasing number of candidate genes involved in
spermatogenesis, the armamentarium of diagnostic genetic tests in male infertility remains …

New uses for new haplotypes: the human Y chromosome, disease and selection

MA Jobling, C Tyler-Smith - Trends in Genetics, 2000 - cell.com
Recent discoveries of many new genes have made it clear that there is more to the human Y
chromosome than a heap of evolutionary debris, hooked up to a sequence that happens to …

Update on the pathophysiology and risk factors for the development of malignant testicular germ cell tumors in complete androgen insensitivity syndrome

M Cools, L Looijenga - Sexual Development, 2017 - karger.com
Prophylactic gonadectomy in young adult women with complete androgen insensitivity
syndrome (CAIS) to avoid development of an invasive testicular germ cell tumor (TGCT) is …