A 45,X/46,XY Male with Orchidopexy Diagnosed with Mixed Germ Cell Tumor After 21-year Follow-up
Urology Case Reports, 2017 A case of a 45,X/46,XY boy with gonadal dysgenesis is presented. The patient showed hypospadias and right undescended testis. He underwent underwent repair surgery for hypospadias, right orchidopexy, and bilateral testicular biopsy.
Masashi Kubota +12 more
doaj +1 more source
A conserved function of Human DLC3 and Drosophila Cv-c in testis development
eLife, 2022 The identification of genes affecting gonad development is essential to understand the mechanisms causing Variations/Differences in Sex Development (DSD). Recently, a DLC3 mutation was associated with male gonadal dysgenesis in 46,XY DSD patients.
Sol Sotillos +10 more
doaj +1 more source
Germ Cell Tumors in Dysgenetic Gonads [PDF]
Clinics, 2019 This review describes the germ cell neoplasms that are malignant and most commonly associated with several types of gonadal dysgenesis. The most common neoplasm is gonadoblastoma, while others including dysgerminomas, yolk-sac tumors and teratomas are ...
Mauri José Piazza +1 more
doaj +1 more source
#332 : A Rare Case Report of Mixed Gonadal Dysgenesis with MOS 46, XY, 47,XY+21, 45,X Karyotype
Fertility & Reproduction, 2023 Background and Aims: Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. A number of differences have been reported in the karyotype, most commonly a mosaicism 45, X/46, XY.
Meycha Dafhonsa +2 more
doaj +1 more source
Pregnancy and gonadal dysgenesis
Journal of Obstetrics and Gynaecology, 1982 SummaryThe loss or deletion of an X-chromosome usually causes rapid atresia of germ cells, so that at the time of birth, or soon afterwards, only non-functioning streak gonads remain. The process of atresia is sometimes incomplete and, in such cases, pubertal changes, spontaneous menstruation and occasional pregnancies have been reported (Kable and ...
E. E. Jolly, D. Muram
openaire +2 more sources
Defective spermatogenesis: Martin et al. respond [PDF]
, 2008 This is an Open Access article - Copyright @ National Institute of Environmental Health Science.BACKGROUND: Male reproductive tract abnormalities such as hypospadias and cryptorchidism, and testicular cancer have been proposed to comprise a common ...
Boobis, Alan R. +5 more
core +2 more sources
Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report
Diagnostic Pathology, 2011 Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian ...
He Anguang +5 more
doaj +1 more source
Disorders of sex development: challenges for the future [PDF]
, 2012 No abstract ...
Ahmed +14 more
core +1 more source
Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases
African Journal of Paediatric Surgery, 2016 Mixed gonadal dysgenesis is characterised by unilateral chromosomal abnormality, which is probably the result of anaphase lag during mitosis. The 45, XO/46, XY karyotype is the most common form of mosaicism involving the Y chromosome.
F F Mouafo Tambo +7 more
doaj +1 more source
A boy or a girl? : Parental, family and whanau information needs when a child is born with an intersex/DSD condition : a thesis presented in fulfilment of the requirements for the degree of MPHIL in Nursing at Massey University, Auckland, New Zealand [PDF]
, 2008 Is it a girl or a boy? This is a question that new parents assume will be answered at the birth, or even in the months leading up to the birth of their baby.
McCarthy, Gabrielle Leigh
core