Role of hormones, genes, and environment in human cryptorchidism

C Foresta, D Zuccarello, A Garolla, A Ferlin - Endocrine reviews, 2008 - academic.oup.com
Cryptorchidism is the most frequent congenital birth defect in male children (2–4% in full-
term male births), and it has the potential to impact the health of the human male. In fact …

Molecular genetic of human male infertility: from genes to new therapeutic perspectives

PH Vogt - Current pharmaceutical design, 2004 - ingentaconnect.com
Genetic lesions causing human male infertility are manifold. Besides gross chromosomal
aneuploidies and rearrangements, microdeletions and single gene defects can interfere with …

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 …

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 …

Klinefelter's syndrome: a clinical and therapeutical update

G Forti, G Corona, L Vignozzi, C Krausz… - Sexual Development, 2010 - karger.com
The prevalence of the Klinefelter's syndrome, ranging between 1/500 and 1/1,000 in the
general male population, rises up to 3–4% among infertile males and to 10–12% in …

Disorders of sex development with testicular differentiation in SRY-negative 46, XX individuals: clinical and genetic aspects

RP Grinspon, RA Rey - Sexual Development, 2016 - karger.com
Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from
congenital adrenal hyperplasia in individuals with typical ovarian differentiation. In rare …

Male hypogonadism and disorders of sex development

RP Grinspon, I Bergadá, RA Rey - Frontiers in Endocrinology, 2020 - frontiersin.org
Disorders of Sex Development (DSD) are congenital anomalies in which there is a
discordance between chromosomal, genetic, gonadal, and/or internal/external genital sex …

Molecular characterization of XX maleness

RP Grinspon, RA Rey - International Journal of Molecular Sciences, 2019 - mdpi.com
Androgens and anti-Müllerian hormone (AMH), secreted by the foetal testis, are responsible
for the development of male reproductive organs and the regression of female anlagen …

46, XX sex reversal

JC Zenteno-Ruiz, S Kofman-Alfaro… - Archives of Medical …, 2001 - Elsevier
In humans, sexual differentiation is directed by SRY, a master regulatory gene located at the
Y chromosome. This gene initiates the male pathway or represses the female pathway by …

Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco

Y Naasse, H Charoute, B El Houate, C Elbekkay… - BMC urology, 2015 - Springer
Background Male infertility is responsible for 50% of infertile couples. Thirty percent of male
infertility is due to cytogenetic and genetic abnormalities. In Arab and North African …