Searchable abstracts of presentations at key conferences in endocrinology

ea0059cc1 | Featured Clinical Cases | SFEBES2018

Pitfalls in the diagnosis of an infant with 46,XX DSD with Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase deficiency - the value of simultaneous genetic analysis to the diagnosis in DSD

Idkowiak Jan , Mohamed Zainaba , Allen Stephanie , Chandran Harish , McCarthy Liam , Kirk Jeremy , Cole Trevor , Krone Nils

Background: Congenital adrenal hyperplasia (CAH) is the underlying diagnosis in most newborns presenting with 46,XX disorders of sex development (DSD). Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of CAH caused by inactivating mutations in the POR gene. The hallmark feature of PORD is combined sex-steroid and glucocorticoid deficiency due to impairment of CYP17A1 and CYP21A2. Skeletal malformations resembling the Antley-Bixler Syndrome phenotype are common i...

ea0078p36 | Gonadal, DSD and Reproduction | BSPED2021

Neuroblastoma with concurrent X chromosome monosomy, a coincidence or an association?

S. Baranowski Elizabeth , Harding Eleanor , Gatz Susanne A. , McCarthy Liam , Chandran Harish , Godber Caroline , Denvir Louise , Turnbull Jenny , Idkowiak Jan , Randell Tabitha , Mohamed Zainaba

Background: Turner’s syndrome (TS) affects 25-50 per 100,000 females. Germinal cell tumour risk is described for TS with Y-chromosome presence (12%) and gonadal dysgenesis (15-35%) but other cancer risk is less well described. Neuroblastoma accounts for 6% of UK childhood cancer registrations, is the commonest cancer diagnosed in the first year of life and the most common extra-cranial solid tumour in childhood. It carries a UK incidence of 10.9 cases/million children. Pr...