hrp0089p2-p367 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

A Rare Form of Ovotesticular DSD: Diagnostic and Management Challenges

Narayan Kruthika , Alderson Julie , Nicoll Nicky , Nicholls Guy , Smithson Sarah , Crowne Elizabeth

We report mosaic triploidy 69XXY/46XX in ovotesticular DSD which poses significant diagnostic and management questions.Case: A baby born to non-consanguineous parents after a normal pregnancy, presented with atypical genitalia including significant clitoromegaly, a urethral opening in the anterior perineum and a normal vaginal opening. Bilateral masses were noted in the labio-scrotal folds. Pelvic ultrasound identified a normal uterus however the gonads ...

hrp0089rfc2.4 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Novel Severe Skeletal Dysplasia with Under-Mineralisation Associated with Reduced In Utero Calcium Transport and TRPV6 Compound Heterozygous Variants

Bowen Philippa , Caswell Richard , Castle Bruce , Welch C Ross , Hilliard Tom , Smithson Sarah , Ellard Sian , Burren Christine

Background: Fetal skeletal bone development and mineralisation depends on placental calcium transfer. Although Parathyroid Hormone (PTH) pathway has some contribution, TRPV6 (the sixth member of the Transient Receptor Potential Vanilloid family) is a recently identified receptor involved in calcium transport and is predominantly expressed in the placenta. It has not previously been linked with skeletal development disorders.Case: This infant had...