Results 51 to 60 of about 1,849 (152)

Unraveling of Diagnosis Odyssey in A Girl with Primary Amenorrhea: A case report

Journal of Biomedicine and Translational Research, 2020
Background:Primary amenorrhea may result from congenital abnormalities in the development of the gonads, genital tract, or external genitalia or from a disturbance within the hypothalamic-pituitary-ovarian axis.
Ni Made Indri Dwi Susanti, Inu Mulyantoro, Dik Puspasari, Nurin Aisyiyah Listyasari, Sultana MH Faradz   +4 more
doaj   +1 more source

False Positive or False Negative—An Interesting Case in Prenatal Diagnostic Laboratory

Journal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.
A prenatal case in which discordant results were identified among SNP‐Array, PNBoBs, conventional karyotyping, and FISH, highlighting the importance of recognizing the limitations of various testing techniques for clinicians to avoid misdiagnosis and missed diagnosis.
Pingping Zhang, Yanmei Sun, Haishen Tian, Xuedong Shi, Limin Rong, Yali Li   +5 more
wiley   +1 more source

Undifferentiated Gonadal Tissue, Y Chromosome Instability, and Tumors in XY Gonadal Dysgenesis

, 2011
Patients with XY gonadal dysgenesis are at increased risk of developing gonadal tumors. The etiology of several cases of XY gonadal dysgenesis remains unknown, but X/XY gonadal mosaicism has been hypothesized to play a role.
Nicole Lemieux, Pierre Brochu, Mélanie Beaulieu Bergeron   +2 more
core   +1 more source

Advances in non‐germ cell tumours of the testis: focus on new molecular developments in sex cord‐stromal tumours

Histopathology, Volume 88, Issue 1, Page 230-251, January 2026.
In this review, we summarise the major recent advances in Testicular Sex Cord‐Stromal Tumours, focusing on molecular alterations and biomarkers relevant for diagnosis, classification and prognosis. Testicular sex cord‐stromal tumours (TSCSTs) represent ~4%–8% of all testicular neoplasms.
João Lobo, Andres M Acosta
wiley   +1 more source

Mixed gonadal dysgenesis with plasty in males [PDF]

, 1989
A 13-year-old Korean boy is reported here as a case of mixed gonadal dysgenesis. The patient presented with perineal hypospadia. He had scrotal testis, epididymis, vas deferens on right side, and abdominal streak gonad, Fallopian tube on left side.
細見, 昌弘, 岡, 聖次, 倉田, 明彦, 高羽, 津, 松宮, 清美, 三宅, 修   +5 more
core  

Gonadoblastoma with Dysgerminoma Presenting as Virilizing Disorder in a Young Child with 46, XX Karyotype: A Case Report and Review of the Literature

Case Reports in Endocrinology, 2022
Gonadoblastoma is a neoplasm containing an intimate mixture of germ cells and elements resembling immature granulosa or Sertoli cells. It has been considered as in situ germ cell malignancy that can be associated with malignant components.
Prathamesh Chandrapattan, Amitabh Jena, Rashmi Patnayak, Swayamsidha Mangaraj, Sujata Naik, Saroj Panda   +5 more
doaj   +1 more source

AS PECULIARIDADES DA DISGENESIA GONADAL MISTA (46, XY/45,X): UMA REVISÃO DA LITERATURA

, 2021
Mixed Gonadal Dysgenesis is a sexual development disorder of the sex chromosome, commonly related to chromosomal mosaicism of 45,X/46,XY karyotypes, in addition to having digenetic gonads and a mutable internal and external reproductive anatomy.
Fabian Dors , Mônica, Hantt Corrêa Lima, Jonas, Malickovski Rodrigues, Thaís, Pietro Biasi , Giulia, Conte Gripa, Maria Eduarda, Arbugeri Menegotto , Gabriele, Silva Sergio , Tuane da   +6 more
core   +1 more source

Mixed gonadal dysgenesis with normal karyotype : A rare case report

Indian Journal of Pathology and Microbiology, 2010
Mixed gonadal dysgenesis (MGD) presents as a unilateral testis, usually intraabdominal, a streak gonad on contralateral side, and persistent mullerian structures.
Anand Ajay, Gupta Narmada, Singh M, Mathur Sandeep, Nayyar Rishi   +4 more
doaj  

Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism

BMC Pediatrics, 2019
Background The aim of this study was to review the growth data, gonadal function and tumour risk of children and adolescents with 45,X/46,XY mosaicism who presented to a single centre in China.
Lili Pan, Zhe Su, Jianming Song, Wanhua Xu, Xia Liu, Longjiang Zhang, Shoulin Li, on behalf of the multidisciplinary collaboration team of DSD management at Shenzhen Children’s Hospital   +7 more
doaj   +1 more source

A De Novo Mutation (c.2423A>G) in SAMD9 Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family

Human Mutation, Volume 2026, Issue 1, 2026.
Background and Aims MIRAGE syndrome is an autosomal‐dominant genetic disease primarily caused by a de novo mutation in the gene SAMD9 gene. This study is aimed at investigating the pathogenesis of MIRAGE syndrome through a Chinese case exhibiting intrauterine growth retardation and renal hypoplasia.
Yuxin Huang, Jiahui Fu, Zhongzhi Gan, Fu Xiong, Honglei Zhu, Fang Yang, Priya Gusain   +6 more
wiley   +1 more source