A Korean boy with 46,XX testicular disorder of sex development caused by duplication
Annals of Pediatric Endocrinology & Metabolism, 2014 The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-
Gyung Min Lee +3 more
openaire +1 more source
Differences in Sex Development.
This work explores the complexities that can arise in sex development, from normal biological processes to developmental deviations that lead to disorders of sex development.
Asaad, Ali,
core
Sexual functioning, mental health and quality of life in 46,XX male: a case report. [PDF]
J Med Case RepSalama N, Hassan OS, Lado DK.
europepmc +1 more source
Familial <i>WT1</i>-associated nephropathy - 46, XY Frasier syndrome and 46, XX steroid-resistant nephrotic syndrome in female siblings: A case report and review of literature. [PDF]
World J NephrolKhandelwal MH, Piparva KG, Parchwani D.
europepmc +1 more source
Male sex assignment in severely virilized 46,XX children with congenital adrenal hyperplasia. [PDF]
Front Endocrinol (Lausanne)Beniczky NJ +8 more
europepmc +1 more source
Prenatal diagnosis of 9p distal deletion associated with subependymal cysts: A case report and literature review. [PDF]
Medicine (Baltimore)Zhang Y, Yue F, Qi T, Liu R.
europepmc +1 more source
Novel gene variants in a rare case of SRY-negative 46, XX male syndrome with bone marrow failure by whole exome sequencing. [PDF]
Blood SciZhang A +9 more
europepmc +1 more source
Near-Comparable Frequency of rob(21;21) and rob(14;21) Translocations in Trisomy 21: A Retrospective Cytogenetic Analysis of 9,313 Cases From an Indian Referral Cohort. [PDF]
CureusKunda S +5 more
europepmc +1 more source