Intersex disorders: shedding light on male sexual differentiation beyond SRY

HE MacLean, GL Warne, JD Zajac - Clinical endocrinology, 1997 - Wiley Online Library
Male sexual differentiation involves a cascade of events initiated by the presence on the Y
chromosome of the SRY gene, which causes the indifferent gonad to develop into a testis …

Mutations in SRY and SOX9: testis-determining genes

FJ Cameron, AH Sinclair - Human mutation, 1997 - search.proquest.com
In humans, activation of genes in the testis-determining pathway at 7–8 weeks gestation
causes the bipotential gonad to develop as a testis. The first morphologically recognisable …

[HTML][HTML] 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 …

Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype

P Paliwal, A Sharma, S Birla, A Kriplani… - Molecular human …, 2011 - academic.oup.com
Primary amenorrhea due to 46, XY disorders of sexual development (DSD) is complex with
the involvement of several genes. Karyotyping of such patients is important as they may …

Clinical aspects of 49 infertile males with 45, X/46, XY mosaicism karyotype: a case series

F Mohammadpour Lashkari, MA Sadighi Gilani… - Andrologia, 2018 - Wiley Online Library
Disorders of sex development (DSD) are congenital abnormalities as an atypical
development process in either gonadal or chromosomal structure. It is the cause of the …

Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report

GY Mutlu, H Kırmızıbekmez, H Aydın… - Journal of Pediatric …, 2015 - degruyter.com
Abstract 46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder
of sexual development. This syndrome is caused by a defect in the determination of sex …

Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis

F Álvarez-Nava, M Soto, L Borjas, R Ortiz, A Rojas… - Annales de …, 2001 - Elsevier
Mixed gonadal dysgenesis (MGD) includes a group of heterogeneous conditions consisting
of a dysgenetic testis with a streak gonad. MGD is probably due to a disturbance in testicular …

[PDF][PDF] Inherited disorders in sexual development

VN Meyers-Wallen - Journal of Heredity, 1999 - scholar.archive.org
Chromosomal sex is normally determined at fertilization. The zygote has either an XX or an
XY chromosome constitution that is maintained by mitosis in all cell types as the embryo …

[HTML][HTML] Identification of SOX3 as an XX male sex reversal gene in mice and humans

E Sutton, J Hughes, S White, R Sekido… - The Journal of …, 2011 - Am Soc Clin Investig
Sex in mammals is genetically determined and is defined at the cellular level by sex
chromosome complement (XY males and XX females). The Y chromosome–linked gene sex …

[PDF][PDF] Testicular feminization: complete androgen insensitivity syndrome. Discussions based on a case report

C Gîngu, A Dick, S Pătrăşcoiu, L Domnişor, M Mihai… - Rom J Morphol …, 2014 - rjme.ro
Abstract Introduction and Objectives: Testicular feminization is the syndrome when a male,
genetically XY, because of various abnormalities of the X chromosome, is resistant to the …