Ambiguous genitalia–A social dilemma in Bangladesh: A case report
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Surgery Case Reports"
DOI: 10.1016/j.ijscr.2017.11.067
Abstract: Highlights • Physical examination: Enlarged clitoris/micropenis, Bifid scrotum/labioscrotal fold, Separate urethral and vaginal orifices.• USG: A rudimentary uterus with no ovary, the rt. testis in the mid inguinal canal, and lt. testis in the deep… read more here.
Keywords: social dilemma; dilemma bangladesh; genitalia social; case ... See more keywords
Neonatal serum electrolyte and proteinuria screening on 46,XY ambiguous genitalia patients may allow early diagnosis of Denys-Drash Syndrome: A Case Report.
Sign Up to like & getrecommendations! Published in 2020 at "Urology"
DOI: 10.1016/j.urology.2020.11.035
Abstract: A term infant with prenatally noted ambiguous genitalia and nonpalpable gonads presented with life-threatening hyponatremia, hypertension, acidosis and anuric renal failure requiring peritoneal dialysis at age 3 months. Sequencing confirmed 46,XY Denys-Drash syndrome (DDS) due… read more here.
Keywords: diagnosis; neonatal serum; drash syndrome; denys drash ... See more keywords
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia
Sign Up to like & getrecommendations! Published in 2020 at "Andrologia"
DOI: 10.1111/and.13937
Abstract: The disorders of sexual development (DSD) represent an array of phenotypes with ambiguous genitalia. The present case had microphallus with fused and bifid scrotum and was initially assigned androgen insensitivity syndrome; however, sequencing of the… read more here.
Keywords: srd5a2 gene; gene case; case; gene ... See more keywords
The Neonate with Ambiguous Genitalia.
Sign Up to like & getrecommendations! Published in 2021 at "NeoReviews"
DOI: 10.1542/neo.22-4-e241
Abstract: Neonates with ambiguous genitalia have various clinical presentations, etiologies, and outcomes, ranging from benign to life-threatening. This review provides a summary of these findings. Some diagnoses may lead to delayed sex assignment. A systematic approach… read more here.
Keywords: neonate ambiguous; ambiguous genitalia;
A Case with late onset of ambiguous genitalia
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Reproductive Biomedicine"
DOI: 10.29252/ijrm.15.3.175
Abstract: Background: Ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development. Case: In this article, we report… read more here.
Keywords: case late; late onset; case; onset ambiguous ... See more keywords
Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2020.569548
Abstract: The occurrence of fetuses suspected of having ambiguous genitalia will likely increase in the future. Currently, the impact of prenatal genetic counseling on parents' understanding and psychological preparedness has not been addressed. We provided prenatal… read more here.
Keywords: genetic counseling; prenatal genetic; case; fetuses suspected ... See more keywords