Disorders of sex development: a new definition and classification

IA Hughes - Best practice & research Clinical endocrinology & …, 2008 - Elsevier
A newborn infant with ambiguous genitalia is a complex enough problem to unravel without
any further clouding by confusing terms. The nomenclature 'intersex','hermaphrodite'and …

Clinical genetic testing for male factor infertility: current applications and future directions

J Hotaling, DT Carrell - Andrology, 2014 - Wiley Online Library
Spermatogenesis involves the aggregated action of up to 2300 genes, any of which, could,
potentially, provide targets for diagnostic tests of male factor infertility. Contrary to the …

46, XX testicular disorder of sex development (DSD): a case report and systematic review

M Terribile, M Stizzo, C Manfredi, C Quattrone… - Medicina, 2019 - mdpi.com
Background and objectives: XX male syndrome is part of the disorders of sex development
(DSD). The patients generally have normal external genitalia and discover their pathology in …

Chromosomal variants in Klinefelter syndrome

A Frühmesser, D Kotzot - Sexual Development, 2011 - karger.com
Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome
abnormality in humans and occurs in one of every 600 newborn males. The typical …

Recent advances in the genetics of testicular failure

SH Song, K Chiba, R Ramasamy… - Asian journal of …, 2016 - journals.lww.com
Infertility affects approximately 15% of couples, and male factor is responsible for 30%–50%
of all infertility. The most severe form of male infertility is testicular failure, and the typical …

Genetics of male infertility

JM Hotaling - Urologic Clinics, 2014 - urologic.theclinics.com
Approximately 1 in 6 couples in the Western world is not able to conceive spontaneously
after 1 year of unprotected intercourse; in nearly half of these couples, the male partner has …

[HTML][HTML] Non-neoplastic diseases of the testis

M Nistal, R Paniagua - Urologic surgical pathology, 2008 - ncbi.nlm.nih.gov
Sexual differentiation is the result of complex genetic and endocrine mechanisms that are
closely associated with the development of both the genitourinary system and the adrenal …

46 XX karyotype during male fertility evaluation; case series and literature review

A Majzoub, M Arafa, C Starks, H Elbardisi… - Asian journal of …, 2017 - journals.lww.com
Forty-six XX disorder of sex development is an uncommon medical condition observed at
times during the evaluation of a man's fertility. The following is a case series and literature …

[HTML][HTML] Chromosomal and molecular abnormalities in a group of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia attending an …

FA Mafra, DM Christofolini, B Bianco, MM Gava… - International braz j …, 2011 - SciELO Brasil
PURPOSE: To determine the frequency of genetic alterations in a population of Brazilian
infertile men with severe oligozoospermia or non-obstructive azoospermia. MATERIALS …

A rare case of 46, XX SRY-negative male with a∼ 74-kb duplication in a region upstream of SOX9

B Xiao, X Ji, Y Xing, Y Chen, J Tao - European journal of medical genetics, 2013 - Elsevier
The 46, XX male disorder of sex development (DSD) is a rare genetic condition. Here, we
report the case of a 46, XX SRY-negative male with complete masculinization. The coding …