Results 61 to 70 of about 5,346 (170)

Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46 XX Karyotype: A Case Report

Journal of Nepal Medical Association, 2019
Gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism .Mullerian agenesis or Mayer‑Rokitansky‑Kuster‑Hauser syndrome is ...
Santosh Kumar Jha, Rosina Manandhar, Veena Rani Shrivastava   +2 more
doaj   +1 more source

Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder

Case Reports in Endocrinology
Summary. 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, Alberto Vielma Valdez, Maricruz Cassou Martinez, Laura Leticia Pérez Corrales, Ramón G. de los Santos Aguilar, Luis David Sol Oliva   +5 more
doaj   +1 more source

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, Dipti Sarma, Uma Kaimal Saikia   +2 more
doaj   +1 more source

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

Clinical Case Reports, Volume 14, Issue 7, July 2026.
Chukwuka Elendu, Alamjeet K. Sidhu, Olisa S. Okabekwa, Ayi T. Debua, Ahmed I. Ali   +4 more
wiley   +1 more source

Swyer Syndrome: A Case Report

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, Mesut Özkaya, Ersin Akarsu   +2 more
doaj   +1 more source

A Novel PPP1R12A Splice‐Site Variant Identified in a Female Fetus With Perineal Hamartoma

Prenatal Diagnosis, Volume 46, Issue 8, Page 1290-1293, July 2026.
Shiyu Chen, Xi Tan
wiley   +1 more source

Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis

Archives of Endocrinology and Metabolism
SUMMARY A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis.
Sarah Crestian Cunha, Juliana Gabriel Ribeiro de Andrade, Camila Matsunaga de Angelis, Athanase Billis, Joaquim Murray Bustorff-Silva, Andréa Trevas Maciel-Guerra, Márcio Lopes Miranda, Gil Guerra-Júnior   +7 more
doaj   +1 more source

Case Report: De novo DHX37 mutations in Saudi patients with 46,XY differences of sex development

Frontiers in Endocrinology
Differences 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, Sara Abid, Dania Farooq, Sara Aljazaeri, Yara Khamag, Raghad Alhuthil, Latifah Alfahad, Afaf Alsagheir, Afaf Alsagheir   +8 more
doaj   +1 more source

Pure Gonadal Dysgenesis [PDF]

Proceedings of the Royal Society of Medicine, 1970
openaire   +2 more sources

NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review. [PDF]

Medicine (Baltimore), 2023
Wei X, Li S, He Y.
europepmc   +1 more source