Results 31 to 40 of about 3,198 (197)

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

Frontiers in Genetics, 2022
In a majority of individuals with disorders/differences of sex development (DSD) a genetic etiology is often elusive. However, new genes causing DSD are routinely reported and using the unbiased genomic approaches, such as whole exome sequencing (WES ...
Housna Zidoune, Housna Zidoune, Housna Zidoune, Asmahane Ladjouze, Djalila Chellat-Rezgoune, Djalila Chellat-Rezgoune, Asma Boukri, Scheher Aman Dib, Nassim Nouri, Meryem Tebibel, Karima Sifi, Noureddine Abadi, Dalila Satta, Dalila Satta, Yasmina Benelmadani, Joelle Bignon-Topalovic, Maeva El-Zaiat-Munsch, Anu Bashamboo, Ken McElreavey   +18 more
doaj   +1 more source

46,XY DSD WITH HETEROZYGOUS MUTATION IN THE NR5A1 GENE

Journal of the ASEAN Federation of Endocrine Societies, 2022
INTRODUCTION Disorders of Sexual Development ( DSD ) is a rare disorder with a wide variable phenotype. These conditions occur rarely with a prevalence of about 1 per 5000 live births. Despite advances in genetic diagnostics, the underlying genetic cause in many of these patients remains elusive.
Ong Kah Hooi, Nalini Selveindran, Jayagauri Balakrishnan, Janet Hong Yeow Hua   +3 more
openaire   +1 more source

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

Challenges in the Diagnosis and Consequential Management of Patients 46, XY DSD

Journal of the Endocrine Society, 2021
Abstract Background: Disorders of sex development (DSD) are clinical conditions that cause an incongruity between the chromosomal and phenotypic sex of an individual. A high variable group of congenital disorders can arise depending upon the timing and location of defect involved in sex determination and differentiation.
Paula Espinoza Berrezueta, Sehar Ejaz, Ismaeel Bakhsh   +2 more
openaire   +1 more source

MAP3K1 Variant Causes Hyperactivation of Wnt4/β-Catenin/FOXL2 Signaling Contributing to 46,XY Disorders/Differences of Sex Development

Frontiers in Genetics, 2022
Background: 46,XY disorders/differences of sex development (46,XY DSD) are congenital conditions that result from abnormal gonadal development (gonadal dysgenesis) or abnormalities in androgen synthesis or action.
Hong Chen, Hong Chen, Qingqing Chen, Yilin Zhu, Ke Yuan, Huizhu Li, Bingtao Zhang, Zexiao Jia, Hui Zhou, Mingjie Fan, Yue Qiu, Qianqian Zhuang, Zhaoying Lei, Mengyao Li, Wendong Huang, Li Liang, Qingfeng Yan, Qingfeng Yan, Qingfeng Yan, Chunlin Wang   +19 more
doaj   +1 more source

Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development

Italian Journal of Pediatrics, 2022
Background Over 100 mutations in the SRD5A2 gene have been identified in subjects with 46,XY disorder of sex development (DSD). Exploration of SRD5A2 mutations and elucidation of the molecular mechanisms behind their effects should reveal the functions ...
Liwei Li, Junhong Zhang, Qing Li, Li Qiao, Pengcheng Li, Yi Cui, Shujun Li, Shirui Hao, Tongqian Wu, Lili Liu, Jianmin Yin, Pingsheng Hu, Xiaowei Dou, Shuping Li, Hui Yang   +14 more
doaj   +1 more source

GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature

JCRPE, 2022
The genetic cause of 46, XY disorder of sex development (DSD) still cannot be determined in about half of the cases. GATA-4 haploinsufficiency is one of the rare causes of DSD in genetic males (46, XY).
Nurullah Çelik, Hande Küçük Kurtulgan, Fatih Kılıçbay, Gaffari Tunç, Ayça Kömürlüoğlu, Onur Taşçı, Cemile Ece Çağlar Şimşek, Taha Çınar4, Yeşim Sıdar Duman   +8 more
doaj   +1 more source

Disorders of sex development: A 10 years experience with 73 cases from the Kashmir Valley

Indian Journal of Endocrinology and Metabolism, 2019
Purpose: To present the clinical data, investigative profile, and management of patients with disorders of sex development (DSD) from the endocrine unit of a tertiary care university hospital.
Raiz Ahmad Misgar, Moomin Hussain Bhat, Shariq Rashid Masoodi, Mir Iftikhar Bashir, Arshad Iqbal Wani, Aejaz Ahsan Baba, Gowhar Nazir Mufti   +6 more
doaj   +1 more source

Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development

BMC Medical Genomics, 2022
Background Disorders of sex development (DSD) are congenital disorders in which the development of the chromosomal, gonadal, or anatomical sex is atypical.
Jia Wei, Jiaqi Wu, Wei Ru, Guangjie Chen, Lei Gao, Daxing Tang   +5 more
doaj   +1 more source

Clinical, etiological and laboratory profile of children with disorders of sexual development (dsd)-experience from a tertiary pediatric endocrine unit in western India

Indian Journal of Endocrinology and Metabolism, 2021
Objectives: To present the clinical profile, diagnostic work-up, and management of children with Disorders of Sexual Development (DSD).Materials and Methods: A retrospective study from a tertiary pediatric endocrine unit of western India.
Rahul Jahagirdar, Vaman Khadilkar, Ruma Deshpande, Nikhil Lohiya   +3 more
doaj   +1 more source