Results 81 to 90 of about 43,260 (208)
Case Reports in EndocrinologySummary. Disorders of sexual differentiation are defined as congenital alterations between chromosomal, gonadal, and phenotypic sex. The principal cause of these disorders is an adrenal origin; however, there are infrequent causes, such as congenital ...
Raúl Villanueva Rodríguez +5 more
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Contemporary issues in primary amenorrhea: An experience from a Tertiary Care Center
Indian Journal of Endocrinology and Metabolism, 2012 Introduction: Amenorrhea is classified as primary if menstrual bleeding has never occurred in the absence of hormonal treatment. The clinical significance of a lack of regular menstrual cycles extends beyond reproductive concerns.
Ashok Krishna Bhuyan +2 more
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Endocrinology Research and Practice, 2014 Swyer syndrome is a pure gonad dysgenesis associating with 46.XY karyotype, primary amenorrhea and presence of female internal genital tract and bilateral streak gonads in a phenotypic female. The diagnosis is usually made at adolescence when the primary
Hakan Korkmaz +2 more
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MIXED GONADAL DYSGENESIS: A RAPORT OF TWO CASES [PDF]
, 1979 Two cases of mixed gonadal dysgenesis were herein reported. Case one was a 16-year-old, legally male patient and the other was a 11-year-old, also legally male patient. Sex chromosome analysis revealed mosaicism of 45XO/46XY in both cases.
斎藤, 泰 +7 more
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Early recognition of gonadal dysgenesis in congenital nephrotic syndrome
, 2016 Mutation of the Wilms tumor suppressor gene (WT1) has been recognized as one of the etiologies of steroid-resistant nephrotic syndrome (SRNS). The mutation is also responsible for gonadal dysgenesis in 46,XY individuals. Early recognition of the presence
Bashamboo, Anu +4 more
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Prophylactic gonadectomy in children with mixed gonadal dysgenesis – a nine-year-old girl [PDF]
, 2018 Gonadna disgeneza embrionalna je anomalija gonada. Može biti čista (Turnerov sindrom) ili miješana (mozaicizam). Miješani oblik s lozom stanica u kojoj se nalazi Y spolni kromosom, sklon je pojavi gonadoblastoma u displastičnim gonadama.
Bulić, Krešimir +9 more
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46, Xy Gonadal Dysgenesis: A Case Report
, 2001 46, XY Gonadal disgenezis female fenotip, seksüel infantilizm, önikoid yapı ve primer amenore şeklinde görülen bir sendromdur. Streak band şeklindeki gonadlardan tümör gelişmesi % 10-30 dur. Plazma ve üriner gonadotropinlerin düzeyleri artmıştır.
Gönen, M. Sait +3 more
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Case Report: De novo DHX37 mutations in Saudi patients with 46,XY differences of sex development
Frontiers in EndocrinologyDifferences of sex development (DSD) are a group of congenital conditions involving atypical chromosomal, gonadal, or anatomical sex development. DHX37, a gene involved in ribosome biogenesis, located on chromosome 12, at the 12q24.31 region, has ...
Abeer Alabduljabbar +8 more
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WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report
, 2015 Heterozygous missense mutations in the WT1 gene that affect the function of the wild-type allele have been identified in Denys-Drash syndrome, which is characterized by severe gonadal dysgenesis, early-onset nephropathy and a predisposition to renal and ...
Finken, Martijn J. J. +5 more
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Supplementary Material for: Mutations in STARD8 (DLC3) may cause 46,XY gonadal dysgenesis
Introduction: 46,XY gonadal dysgenesis is a condition that is characterised by undeveloped testes in individuals with a male karyotype. Mutations in many genes that underlie this condition have been identified; however, there are still a considerable ...
Sirokha D. (18093712) +10 more
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