hrp0086p2-p82 | Adrenal P2 | ESPE2016
Buchanan C.R.
, Kalitsi J.
, Ghataore L.
, Taylor N.F.
, Clifford-Mobley O.
, Rumsby G.
, Kapoor R.R.
Background: HSD3B2 is a rare cause of autosomal recessive primary adrenal insufficiency, potentially associated with under virilisation of XY males and virilisation of XX females. We present a case of a male infant presenting at term with ambiguous genitalia (DSD) with underlying diagnosis confirmed biochemically and genetically with a novel mutation of HSD3beta2.Objective: Case report.Patients and methods: Baby was born as FTND wi...