Results 31 to 40 of about 2,312 (175)
Gonadal tumor and H-Y antigen in 46,XY pure gonadal dysgenesis [PDF]
Cancer, 1986 Six cases of Swyer's syndrome (46,XY pure gonadal dysgenesis) are reported. Three patients, without gonadal tumor, had female H-Y antigen. Three patients, after gonadal tumor ablation, had intermediate H-Y antigen levels. Repeated blood samples were obtained from two siblings.
V, Amice +4 more
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Clinical Case Reports, 2022 Swyer syndrome is a 46, XY karyotype, with pure gonadal dysgenesis and primary amenorrhea. These females have primordial Mullerian structures and seek medical attention as they experience primary amenorrhea.
Tahereh Ashraf Ganjooei +5 more
doaj +1 more source
The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center
Journal of the Formosan Medical Association, 2019 Background/Purpose: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. Here, we present our experience in the management of 45,X/46,XY Taiwanese children. Patients and Methods: We enrolled 19 patients from January 1981 to September 2016.
Yen-Chun Huang +6 more
doaj +1 more source
Indian Journal of Endocrinology and Metabolism, 2021 Objectives: To present the clinical profile, diagnostic work-up, and management of children with Disorders of Sexual Development (DSD).Materials and Methods: A retrospective study from a tertiary pediatric endocrine unit of western India.
Rahul Jahagirdar +3 more
doaj +1 more source
Swyer syndrome (46, XY complete gonadal dysgenesis)
Philippine Journal of Obstetrics and Gynecology, 2022 Swyer syndrome is a type of gonadal dysgenesis wherein a 46, XY karyotype presents with a female phenotype. It is a rare cause of disorder in sexual development that occurs in 1:100,000 births. Local studies are currently limited to few case reports. Sex-determining region on the Y chromosome gene mutation is the root cause of
Pamela Maria P. Mallari +1 more
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Modern competency‐based teaching of human sexual development
Anatomical Sciences Education, EarlyView.Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler +2 more
wiley +1 more source
Role of SoxE transcription factors in development and disease
Developmental Dynamics, EarlyView.Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley +1 more source
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
Successful twin pregnancy in a 46,XY pure gonadal dysgenesis
Journal of Obstetrics and Gynaecology, 2013 The karyotypes of the normal human males and females are 46,XY and XX, respectively. Women with the 46,XY genotype represent a very heterogeneous group.
De Santis, Marco +3 more
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Peripheral precocious puberty: 46,XY complete gonadal dysgenesis
Anales de Pediatría (English Edition), 2014 Despite standard clinical definitions and availability of diagnostic tests for precocious puberty, an intensive and structured investigation is needed in order to diagnose the aetiology in particular cases. A 4-year-old, phenotypically female child was referred to paediatric endocrinology consultation for premature pubarche and thelarche.
M, Santalha +9 more
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