[PDF][PDF] The crucial role of SRY gene in the determination of human genetic sex: 46, XX disorder of sex development

CC Albu, DF Albu, AR Muşat, IG Stancu, ŞD Albu… - Rom J Morphol …, 2019 - rjme.ro
Prenatal diagnosis of disorder of sex development (DSD) is very rare and is estimated to
occur in 1/2500 pregnancies. A group of DSDs are the 46, XX testicular DSD. Today, the …

The 46, XX male; a chromosomal form of a disorder of sex development

MM Visser, HL Lutgers… - Nederlands Tijdschrift …, 2018 - europepmc.org
A disorder of sex development (abbreviated DSD) is defined as a congenital condition in
which development of chromosomal, gonadal or anatomical sex is atypical. DSD is caused …

Two males with SRY-positive 46, XX testicular disorder of sex development

S Gunes, R Asci, G Okten, F Atac, OE Onat… - Systems biology in …, 2013 - Taylor & Francis
The 46, XX testicular disorder of sex development (46, XX testicular DSD) is a rare
phenotype associated with disorder of the sex chromosomes. We describe the clinical …

Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46, XY female

J Müller, M Schwartz… - The Journal of Clinical …, 1992 - academic.oup.com
The first and essential step in normal sexual differentiation takes place during the 5th-6th
week of gestation. The testis determining factor (TDF) directs the undifferentiated gonad into …

Extended Pedigree with Multiple Cases of XX Sex Reversal in the Absence of SRY and of a Mutation at the SOX9 Locus

SG Temel, T Gulten, T Yakut, H Saglam, N Kilic… - Sexual …, 2006 - karger.com
It is well established that testicular differentiation of the human embryonic gonad depends
on the action of the Y-chromosomal gene SRY. However, exceptional cases such as SRY …

[PDF][PDF] Gene SRY et anomalies de la determination genetique du sexe chez l'homme

F Poulat, C Goze, B Boizet, P Berta - Andrologie, 1992 - bacandrology.biomedcentral.com
SRY GENE AND HEREDITARY ERRORS OF GENETIC SEX DETERMINATION IN MAN.
Normal sexual development in man is the consequence of a complex process. This review …

Prenatal diagnosis of 46, XX testicular disorder of sex development with SRY-positive: A case report and review of the literature

H Shen, Y Liu, C Wang, R Wang, Z Di, X Huang… - European Journal of …, 2023 - Elsevier
We report a case of a fetus with 46, XX testicular disorder of sex development detected
prenatally. This fetus was found abnormally due to non‐invasive prenatal testing …

Familial disorder of sex determination in seven individuals from three related sibships

N Jarrah, H El-Shanti, A Khier, FN Obeidat… - European journal of …, 2000 - Springer
In humans, the sex of an individual is determined by the Y-chromosome-related SRY gene,
which causes the differentiation of the undifferentiated gonads into testicular tissue. True …

[HTML][HTML] A rare presentation of disorder of sex development

S Ashfaq, A Siddiqui, W Shafiq, U Azmat - Cureus, 2021 - ncbi.nlm.nih.gov
Disorder of sex development (DSD) is the term ascribed to a wide group of disorders
presenting with congenital discord between chromosomal sex and phenotypic …

A del(X)(p11) carrying SRY sequences in an infant with ambiguous genitalia

M Ellaithi, D Gisselsson, T Nilsson, S Abd El-Fatah… - BMC pediatrics, 2006 - Springer
Background SRY (sex-determining region, Y) is the gene responsible of gonadal
differentiation in the male and it is essential for the regular development of male genitalia …