Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes [PDF]
Prenatal Diagnosis, 2022 To report uptake of genetic counseling (GC) and prenatal genetic testing after the finding of atypical genitalia on prenatal ultrasound (US) and the clinical and genetic findings of these pregnancies.
Y. van Bever +9 more
semanticscholar +6 more sources
An atypical presentation of discrete papular mucinosis in the genitalia mimicking a molluscum contagiosum infection. [PDF]
Dermatology Online Journal, 2020 Discrete papular mucinosis is a rare variant of primary cutaneous mucinosis. Involvement of genitalia is extremely rare and can mimic molluscum contagiosum. We report the second case of a papular mucinosis with an exclusive genital involvement.
Amaia Saenz-Aguirre +3 more
semanticscholar +7 more sources
A Nationwide Study of the Prevalence and Initial Management of Atypical Genitalia in the Newborn in Scotland [PDF]
Sexual Development, 2021 Provision of optimum healthcare for infants with atypical genitalia requires a clear understanding of the occurrence of this condition. The objective of this study was to determine the prevalence of atypical genitalia and its initial management.
M. Rodie +9 more
semanticscholar +3 more sources
Cloaca with duplicated phallus – A case report
Journal of Pediatric Surgery Case Reports, 2016 A child born with atypical genitalia constitutes a medico-social emergency, a multidisciplinary team constituting a pediatric endocrinologist, pediatric surgeon and a psychologist has to be convened.
Pradnya Bendre +2 more
doaj +2 more sources
Porokeratosis ptychotropica of the scrotum: dermoscopic evaluation of an atypical presentation [PDF]
Anais Brasileiros de Dermatologia, 2015 Porokeratosis ptychotropica is a rare variant of porokeratosis that is classically located on the gluteal and perianal regions, seldom extending to the genitalia.
Joana Cabete +4 more
doaj +3 more sources
A Child with Ambiguous Genitalia: An Atypical Presentation.
Journal of the College of Physicians and Surgeons Pakistan, 2019 Lipoid congenital adrenal hyperplasia (LCAH) (OMIM No. 201710) is the most severe type of congenital adrenal hyperplasia (CAH). Its clinical presentation includes lethal disturbance of adrenal and gonadal steroid synthesis due to impairment in the ...
W. Sheikh +5 more
semanticscholar +3 more sources
Suspected Ovotesticular Disorders of Sexual Differentiation in a Phenotypic Male With Ambiguous Genitalia, Light Menstrual Flow, and Synchronous Bilateral Dysgerminoma: A Case Report From Ethiopia [PDF]
Case Reports in PediatricsConclusion: Ovotesticular DSD with bilateral dysgerminoma is exceedingly rare and poses significant diagnostic and therapeutic challenges. Early diagnosis, multidisciplinary management, and timely oncologic intervention are crucial for optimizing patient
Melkamu Siferih +7 more
doaj +2 more sources
MON-189 Dissecting Gonadoblastoma in Infant with Atypical External Genitalia
Journal of the Endocrine SocietyK. Bangalore Krishna: None. F.X. Schneck: None. M. Reyes-Mugica: None. S.A. Yatsenko: None. S.F. Witchel: None. Introduction: Individuals with 45,X/46,XY karyotypes have increased risks of developing germ cell tumors such as gonadoblastoma, defined as an
Krishna, Kanthi Bangalore +4 more
core +2 more sources
Varied Presentation of Nonvenereal Genital Dermatoses in Female: Report of Six Cases
Journal of Dermatology and Dermatologic SurgeryGenital disorders are not always sexually transmitted. Such nonvenereal genital dermatoses may be confined to the genitalia only or may also involve other body parts.
Seema Rani +3 more
doaj +2 more sources
A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia [PDF]
ReportsBackground and Clinical Significance: The 45,X0/46,XY mosaic karyotype is categorized as a disorder of sex development and can lead to atypical sexual development.
Mariola Krzyścin +4 more
doaj +2 more sources