[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 …

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 …

Molecular mechanisms associated with 46, XX disorders of sex development

I Knarston, K Ayers, A Sinclair - Clinical Science, 2016 - portlandpress.com
In the female gonad, distinct signalling pathways activate ovarian differentiation while
repressing the formation of testes. Human disorders of sex development (DSDs), such as 46 …

Testicular architecture of men with 46, XX testicular disorders of sex development

M Hiort, J Rohayem, R Knaf, S Laurentino… - Sexual …, 2023 - karger.com
Background: A subtype of disorders of sex development (DSD) in individuals with a 46, XX
karyotype who are phenotypically male is classified as testicular DSD (46, XX TDSD). These …

Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature

C Capron, L Januel, G Vieville, S Jaillard, P Kuentz… - …, 2022 - Wiley Online Library
Background The translocation of SRY onto one of the two X chromosomes results in a 46,
XX testicular disorder of sex development; this is supposedly because of non‐allelic …

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic

L Laino, S Majore, N Preziosi… - Endocrine …, 2014 - ec.bioscientifica.com
Sex development is a process under genetic control directing both the bi-potential gonads to
become either a testis or an ovary, and the consequent differentiation of internal ducts and …

Polymorphisms in the SOX9 region and testicular disorder of sex development (38, XX; SRY-negative) in pigs

M Stachowiak, I Szczerbal, J Nowacka-Woszuk… - Livestock Science, 2017 - Elsevier
Testicular XX disorder of sex development (XX DSD, SRY-negative), causing sterility, is
quite frequently diagnosed in pig populations, however, its molecular background is still …

The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review

J Zhuang, C Chen, J Li, Y Jiang, J Wang… - Frontiers in …, 2021 - frontiersin.org
Background: Very few reports are available on human XX ovotesticular disorder of sex
development involving SOX3 gene duplication. Here we aim to present a rare case of SOX3 …

Diagnosis and management of non-CAH 46, XX disorders/differences in sex development

Z Yavas Abalı, T Guran - Frontiers in Endocrinology, 2024 - frontiersin.org
Prenatal-onset androgen excess leads to abnormal sexual development in 46, XX
individuals. This androgen excess can be caused endogenously by the adrenals or gonads …

How geneticists think about differences/disorders of sexual development (DSD): a conversation

HM Byers, M Fossum, HY Wu - Journal of Pediatric Urology, 2020 - Elsevier
A multidisciplinary DSD clinic offers the opportunity for different specialties to learn from
each other, as each provides their own perspective and expertise to the management of …