Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development [PDF]
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.
Felipe Martins Elias +2 more
exaly +4 more sources
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 +4 more sources
Psychological Adjustment of Parents of Children Born with Atypical Genitalia 1 Year after Genitoplasty [PDF]
Purpose: We examined the psychological adjustment of parents of children born with moderate to severe genital atypia 12 months after their child underwent genitoplasty.
Dana M Bakula +2 more
exaly +3 more sources
Atypical presentation of SARS-CoV-2 infection in male genitalia
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.
Håkan Özveri, Murat Tugrul Eren
exaly +4 more sources
Changes in levels of parental distress after their child with atypical genitalia undergoes genitoplasty [PDF]
Cortney Wolfe-Christensen +2 more
exaly +3 more sources
Atypical functioning of female genitalia explains monandry in a butterfly [PDF]
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 +3 more sources
Approaching a Newborn with Atypical Genitalia: Hints for Pediatricians
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 +2 more sources
An atypical manifestation of hand-foot and mouth disease involving the genitalia
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 +2 more sources
Spectrum and genotype–phenotype correlation of NR5A1 variants in 46,XY DSD: a systematic review and meta-analysis [PDF]
Context: 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
Obesity-related pubis lymphedema enclosing genitalia: An atypical case of genital reconstruction
Massive localized lymphoedema (MLL) is a rare complication of morbid obesity and has been scarcely reported in the literature, especially in the pubic area and genitalia. It is associated to BMI more than 40 kg/m2.
Daniel-Adrien Wurlod +4 more
doaj +2 more sources

