Prenatal detection of atypical genitalia: Remember KAT6B disorders

Atypical genitalia, or ambiguous genitalia, are a morphologic diagnosis with various underlying etiologies. These patients form a subgroup of individuals with differences/disorders of sex development [ [1] Wisniewski A.B. Batista R.L. Costa E.M.F. Finlayson C. Sircili M.H.P. Dénes F.T. et al. Management of 46, XY Differences/Disorders of Sex Development (DSD) Throughout Life. Endocr Rev. 2019; 40: 1547-1572 Crossref PubMed Scopus (50) Google Scholar ]. Atypical genitalia are frequently detected or suspected in prenatal ultrasound screening. Uncertainty in the ability to assign a fetal sex can be distressful for parents. Timely investigating the findings and the differential diagnosis is critical. We here report two fetuses of atypical genitalia caused by KAT6B disorders.