Elevated plasma miR-210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development [PDF]
Molecular Genetics & Genomic Medicine, 2022 Background Differences of sex development (DSD) is a term used for conditions in which the chromosomal, gonadal or phenotypical sex is atypical. 46,XY DSD patients frequently present undervirilized external genitalia.
Mirian Yumie Nishi +2 more
exaly +3 more sources
Reproductive Medicine, 2022 Copy number variations (CNVs) have been implicated in various conditions of differences of sexual development (DSD). Generally, larger genomic aberrations are more often considered disease-causing or clinically relevant, but over time, smaller CNVs have ...
Ashley U. Amukamara, Ina E. Amarillo
exaly +3 more sources
Spectrum and genotype–phenotype correlation of NR5A1 variants in 46,XY DSD: a systematic review and meta-analysis [PDF]
Endocrine ConnectionsContext: NR5A1 encodes steroidogenic factor 1, a master regulator of adrenal and gonadal development. Pathogenic NR5A1 variants are among the most common genetic findings in 46,XY differences of sex development (DSD), yet the broad phenotypic spectrum ...
Renata T Dallago +4 more
doaj +2 more sources
Atypical presentation of SARS-CoV-2 infection in male genitalia
Urology Case Reports, 2020 During novel coronavirus 2019 (COVID-19) pandemic, patients usually present with several reports showing symptoms of severe systemic or respiratory illness and, although rare, some genital complaints such as scrotal discomfort can be seen.
Murat Tuğrul Eren +2 more
exaly +3 more sources
Changes in levels of parental distress after their child with atypical genitalia undergoes genitoplasty [PDF]
Journal of Pediatric Urology, 2017 Natalie Nokoff
exaly +2 more sources
Psychological Adjustment of Parents of Children Born with Atypical Genitalia 1 Year after Genitoplasty [PDF]
Journal of Urology, 2017 Dana M Bakula
exaly +2 more sources
Atypical functioning of female genitalia explains monandry in a butterfly [PDF]
PeerJ, 2021 Monandrous species are rare in nature, especially in animals where males transfer nutrients to females in the ejaculate. The proximate mechanisms responsible for monandry are poorly studied.
David Xochipiltecatl +2 more
doaj +2 more sources
An atypical manifestation of hand-foot and mouth disease involving the genitalia
Indian Journal of Paediatric Dermatology, 2021 Hand-foot and mouth disease (HFMD), an acute viral illness, is caused by the Coxsackievirus (CV) that commonly affects young children. We report a case of a 15-month-old female child with painful erosions over the genitalia, following which she developed
Bharathi Ravikumar +2 more
doaj +1 more source
Approaching a Newborn with Atypical Genitalia: Hints for Pediatricians
Trends in Pediatrics, 2022 Infants born with genitals that do not appear typically male or female, are classified as having a difference/disorder of sex development (DSD). The current terminology and classification of DSD was established as suggested in the Chicago consensus ...
Tülay Güran
doaj +1 more source
Psychiatric Approach Management of Ambiguous Genitalia in Children and Teenagers
Jurnal Psikiatri Surabaya, 2023 Introductions: Ambiguous genitalia is a congenital disorder defined by atypical development at the chromosomal, gonadal, or anatomical levels of the sex organ. The incidence of ambiguous genitalia is estimated to be 1 in 4500-5500 births.
Popy Arizona +2 more
doaj +1 more source