Results 81 to 90 of about 1,703 (122)

Ovotesticular Disorder of Sex Development with 46,XX/47,XXY Mosaicism: Challenges in Diagnosis, Gender Assignment, Gonadal Preservation, and Long-Term Oncologic Surveillance – A Case Report

Endocrinology Insights
Introduction: Ovotesticular disorder of sex development (DSD) is a rare condition, most commonly associated with a 46,XX karyotype. Mosaic karyotypes such as 46,XX/47,XXY are extremely uncommon and pose unique diagnostic and management challenges ...
K. Johnin, Katsuyuki Matsui, Suzuko Moritani, Shiori Fujimoto, Daichi Johnin, Ryosuke Kikui, Yuri Mori, Kenichi Kobayashi, T. Yoshida, Susumu Kageyama   +9 more
semanticscholar   +1 more source

Gonadal genetics and germ cell tumors risk in SRY-negative 46,XX testicular/ovotesticular disorders of sex development.

Hormone Research in Paediatrics
INTRODUCTION The gonadal genetics and germ cell tumors (GCTs) risk in SRY-negative 46,XX testicular and ovotesticular disorders of sex development (DSD) are poorly understood and debated.
Hao Yang, H. Tian, Dehua Wu, W. Gu, Daxing Tang, Junfen Fu   +5 more
semanticscholar   +1 more source

The Coexistence of Gonadal Dysgenesis and the Mayer-Rokitansky-Kuster Hauser Syndrome in a girl with a 46, XX karyotype: A Rare Case Report

Bangladesh Journal of Obstetrics & Gynaecology
Background: 46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped or absent ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism.
Shain Fariya Shetu, Kohinoor Begum
semanticscholar   +1 more source

Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD

Journal of Clinical Endocrinology and Metabolism
Context There is scarce information on the natural history of gonadal function of testicular disorders/differences of sex development (T-DSD) and ovotesticular DSD (OT-DSD). Objective To evaluate gonadal outcome in a large cohort of cases of T-DSD and OT-
M. Sepich, Silvano Bertelloni, N. Tyutyusheva, Angela Lucas-Herald, I. Mazen, M. Cools, R. Van Paemel, S. Poyrazoglu, O. Hiort, Ulla Döhnert, U. Neumann, F. Phan-Hug, N. Atapattu, S. Seneviratne, R. Markosyan, R. Rey, Sofía Suco, Federico Baronio, C. Lichiardopol, G. Verkauskas, M. Stancampiano, Gianni Russo, Daniel Konrad, N. Lenherr-Taube, Sabine E. Hannema, Gabriella Gazdagh, D. Peroni, S. F. Ahmed   +27 more
semanticscholar   +1 more source

Exploring the Involvement of RSPO1 Gene Variations in 46,XX DSD Patients With Mullerian Agenesis and/or Gonadal Dysgenesis—An Indian Study

Journal of Obstetrics and Gynaecology Research
There is a dearth of knowledge on the genetic background of Indian 46,XX DSD patients with Mullerian agenesis (MA) and/or gonadal dysgenesis (GD). Being one of the key controlling genes in female sex determination/differentiation, there is a paucity of ...
Ragitha T. S., Sunish K. S., Saley Daniel, Saritha F., Sareena Gilvaz, D. K. V., Jijo Francis, Varghese Pulikkottil Raphael, S. Raveendran   +8 more
semanticscholar   +1 more source

Mayer‐Rokitansky‐Küster‐Hauser syndrome with a uterine cervix and normal vagina associated with gonadal dysgenesis in a 46,XX female

The journal of obstetrics and gynaecology research, 2019
Coexistence of Mayer‐Rokitansky‐Küster‐Hauser syndrome and gonadal dysgenesis is extremely rare, and a case of Mayer‐Rokitansky‐Küster‐Hauser syndrome with a uterine cervix and normal vagina has not been reported.
I. Kisu, Ayumi Ono, Tomoko Iijma, Motoko Katayama, A. Iura, N. Hirao   +5 more
semanticscholar   +1 more source

Identification of a novel variant in MYRF gene in a patient with 46, XX disorders of sex development

Gynecological Endocrinology
Objective To expand the clinical phenotype associated with MYRF mutations in disorders of sex development (DSDs). Methods We present a case of a 17-year-old patient with a female phenotype who presented with primary amenorrhea.
Leilei Ding, Q. Tian
semanticscholar   +1 more source

Retrospective analysis of children with 46,XX testicular/ovotesticular DSD: a 10-year single-center experience

Frontiers in Endocrinology
Purpose 46,XX testicular/ovotesticular differences/disorders of sexual development (TDSD/OTDSD) are rare in childhood and exhibit marked distinctions compared to those in adulthood.
Yan Gong, Xiaoqi Yin, Jing Xu, Yan Li, Qingxu Liu, Shasha Zhou, Fei Wang, Yiqing Lyu, Sheng Guo, Wenyan Huang, Pin Li   +10 more
semanticscholar   +1 more source

Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development

Annals of Pediatric Endocrinology & Metabolism
Purpose 46,XX disorders of sex development (DSD) involve atypical genitalia accompanied by a normal female karyotype. This study was performed to investigate the clinical characteristics and long-term outcomes of patients with 46,XX DSD.
Heeyon Yoon, Dohyung Kim, Ja Hye Kim, H. Yoo, Jin-Ho Choi   +4 more
semanticscholar   +1 more source

Precocious puberty in a severely virilized 46, XX child: Diagnostic and therapeutic challenges

Journal of Association of Clinical Endocrinologist and Diabetologist of Bangladesh
The most common cause of peripheral precocious puberty (PPP) is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, resulting in excess androgen production independent of activation of the hypothalamic-pituitary-gonadal axis.
Abida Yasmin, Md Momonul Islam Fakir, Md. Rezaul Karim, Md. Shamim Hossan, Md Lutful Kabir, S. Talukder, Md. Qamrul Hassan   +6 more
semanticscholar   +1 more source