Results 11 to 20 of about 50,074,769 (205)

Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis [PDF]

The Turkish Journal of Pediatrics, 2016
46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of 46, XY sexual development disorder. The patient presented to our clinic with absence of breast development and lack of periods at the age of 17 years.
Melikşah Keskin, Şenay Savaş-Erdeve, Erdal Kurnaz, Semra Çetinkaya, Ayşe Karaman, Sema Apaydın, Zehra Aycan   +6 more
doaj   +5 more sources

Germ Cell Tumors in 46, XY Gonadal Dysgenesis

Indian Journal of Endocrinology and Metabolism, 2023
Introduction: To present the clinical data, investigative profile, management, and follow-up of patients with 46, XY gonadal dysgenesis with germ cell tumors from the endocrine unit of a tertiary care university hospital.
Raiz A Misgar, Sajad U Islam Mir, Mohmad H Mir, Mir I. Bashir, Arshad I. Wani, Shariq R. Masoodi   +5 more
doaj   +4 more sources

Genetics of 46,XY gonadal dysgenesis

Best Practice & Research Clinical Endocrinology & Metabolism, 2022
In 46,XY men, testis is determined by a genetic network(s) that both promotes testis formation and represses ovarian development. Disruption of this process results in a lack of testis-determination and affected individuals present with 46,XY gonadal dysgenesis (GD), a part of the spectrum of Disorders/Differences of Sex Development/Determination (DSD).
Elzaiat, Maëva, Mcelreavey, Ken, Bashamboo, Anu   +2 more
openaire   +4 more sources

Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report [PDF]

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, Dai Shundong, Li Qingchang, Wang Yan, Han Yang, Wang Enhua   +5 more
doaj   +2 more sources

Mutations in STARD8 (DLC3) May Cause 46,XY Gonadal Dysgenesis

Sexual Development, 2023
<b><i>Introduction:</i></b> 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 number of patients with an unknown genetic background.
Sirokha, Dmytro, Rayevsky, Alexey, Gorodna, Olexandra, Kalynovskyi, Vitalii, Zelinska, Nataliya, Samson, Oksana, Kwiatkowska, Krystyna, Nef, Serge, Jaruzelska, Jadwiga, Kusz-Zamelczyk, Kamila, Livshits, Ludmila   +10 more
openaire   +4 more sources

Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report

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, Zanbagh Pirastehfar, Asieh Mosallanejad, Masoomeh Raoufi, Noushin Afshar Moghaddam, Mozhgan Hashemieh   +5 more
doaj   +2 more sources

Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis

Clinical Genetics, 2003
46,XY gonadal dysgenesis was transmitted as an autosomal‐dominant trait in a large family with multiple affected members. Expressivity of the trait was highly variable, ranging from pure to partial gonadal dysgenesis associated with normal female genitalia or sexual ambiguity, to mild hypospadias in otherwise normal males.
Jawaheer, D, Juo, S‐hh, Le Caignec, C, David, A, Petit, Christine, Gregersen, P, Dowbak, S, Damle, A, Mcelreavey, Kenneth, Ostrer, H   +9 more
openaire   +3 more sources

Stage IIIC Bilateral Dysgerminoma in 46,XY Swyer Syndrome: Preventing Malignancy Through Early Endocrine Evaluation of Primary Amenorrhea. [PDF]

Clin Case Rep
Clinical Case Reports, Volume 14, Issue 7, July 2026.
Elendu C, Sidhu AK, Okabekwa OS, Debua AT, Ali AI.   +4 more
europepmc   +2 more sources

Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report. [PDF]

Clin Case Rep
A 6‐year‐old child with a rare dual diagnosis confirmed by genetic testing ‐ osteogenesis imperfecta (blue sclerae, disproportionate short stature) and concurrent 46,XY disorder of sex development (micropenis, hypospadias, impalpable gonads). ABSTRACT Osteogenesis imperfecta (OI) is a heritable disorder of type I collagen characterized by bone ...
Agarwal H, Jha T, Azmi MO, Sarkar S, Suresh V.   +4 more
europepmc   +2 more sources

Stage IIIC Bilateral Dysgerminoma in a 16-Year-Old Phenotypic Female With 46,XY Complete Gonadal Dysgenesis and Primary Amenorrhea: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Dysgerminoma, the most common malignant ovarian germ cell tumor, has a significantly increased incidence in individuals with 46,XY complete gonadal dysgenesis (Swyer syndrome). However, primary amenorrhea is the hallmark presentation of Swyer syndrome in adolescence.
Vasef M, Afshar Moghaddam N, Raoufi M, Iranipour M, Moghadami S.   +4 more
europepmc   +2 more sources