Results 31 to 40 of about 5,340 (169)
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
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
Urology Annals, 2021 A 22-year-old known case of 45XO/46XY mixed gonadal dysgenesis, reared as a male, presented with complaints of suprapubic and left iliac fossa pain for the past 1 month.
Samson Ravirajendran +4 more
doaj +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Indian Journal of Endocrinology and Metabolism, 2013 The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare. We report a 21-year-old phenotypical female who presented with primary amenorrhea and underdeveloped secondary sexual characteristics.
Viral N Shah +5 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
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
Advent of NK3R Antagonists for the Treatment of Menopausal Hot Flushes: A Narrative Review
BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.ABSTRACT The menopause transition is marked by symptoms predominantly attributed to declining oestrogen levels. Approximately 80% of women experience associated symptoms, and 25% experience severe symptoms. The commonest are vasomotor symptoms (VMS), collectively referring to hot flushes and/or night sweats.
Aaran H. Patel +5 more
wiley +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