Results 41 to 50 of about 169,144,440 (149)

Birth Weight in Different Etiologies of Disorders of Sex Development [PDF]

, 2017
Context: It is well established that boys are heavier than girls at birth. Although the cause of birth weight (BW) difference is unknown, it has been proposed that it could be generated from prenatal androgen action.
GÜRAN, TÜLAY
core   +2 more sources

Sex-determining Region of Y-gene Translocation and 46,XX Testicular Disorders of Sex Development: Cytogenetic and Molecular Insights into Male Infertility

Journal of Human Reproductive Sciences
46,XX male syndrome, also known as De la Chapelle syndrome, is a rare condition characterised by a discordance between chromosomal sex and male phenotypic presentation.
Pritti K Priya, Hetvi Patel, Devanshi Dalal, Amisha Shah   +3 more
doaj   +1 more source

Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene

JCRPE, 2020
Aromatase deficiency rarely causes a 46,XX sexual differentiation disorder. The CYP19A1 gene encodes the aromatase enzyme which catalyses the conversion of androgens to oestrogens.
Samim Özen, Tahir Atik, Özlem Korkmaz, Hüseyin Onay, Damla Gökşen, Ferda Özkınay, Özgür Çoğulu, Şükran Darcan   +7 more
doaj   +1 more source

Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells

Taiwanese Journal of Obstetrics & Gynecology, 2021
Objective: Sex chromosome mosaicism remains challenging in the study of disorders of sex development (DSD). Aneuploid cells in the developing gonad play a major role in sex determination. Therefore, it is necessary acknowledge their presence by different
Rosalba Sevilla-Montoya, Maria de Jesus Zavaleta-Abreu, Gloria Queipo, Silvia Sanchez, Sara Frias, Alberto Hidalgo-Bravo, Patricia Grether-González   +6 more
doaj   +1 more source

Ultrasonography for disorders of sex development in pediatrics

Frontiers in Pediatrics
ObjectiveThis study aimed to evaluate the clinical value of ultrasonography in the management of disorders of sex development (DSDs).MethodsUltrasonographic appearance and clinical data of 82 cases with DSD were reviewed retrospectively.ResultsIn total ...
Yuting Wu, Anqi Tao, Jigang Jing, Hua Zhuang   +3 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

Diagnosis and management of non-CAH 46,XX disorders/differences in sex development

Frontiers in Endocrinology
Prenatal-onset androgen excess leads to abnormal sexual development in 46,XX individuals. This androgen excess can be caused endogenously by the adrenals or gonads or by exposure to exogenous androgens.
Zehra Yavas Abalı, Tulay Guran
doaj   +1 more source

Ovotesticular disorders of sex development with dysgerminoma in a 46, XX/46, XY female: A case report

Gynecologic Oncology Reports
The diagnosis of ovotesticular disorders of sex development can only be confirmed when both testicular and ovarian tissues are present simultaneously in the same individual, regardless of the patient’s karyotype. This report aims to discuss the diagnosis
Yafei Xue, Shuqi Zuo, Min Cui, Xingbo Zhao, Xiaoyi Qi   +4 more
doaj   +1 more source

Non-Syndromic 46,XY Disorders of Sex Development

, 2018
Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic ...
Banovcin P, Gecz J, Breza J
core   +1 more source

Two Males with SRY-Positive 46, XX Testicular Disorder of Sex Development [PDF]

, 2013
The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16-and a 30-year-old male patient with sex ...
Gonul Ogur, Aydin, O., Gunes, S., Ozcelik, T., Tayfun Ozcelik, Asci, R., Bagci, H., Sezgin Gunes, Fatih Atac, Gülsen Okten, Onat, O. E., Ogur, G., Ramazan Asci, Oguz Aydin, Okten, G., Hasan Bagci, Atac, F., Onur E. Onat   +17 more
core   +1 more source