ea0030oc2.8 | Oral Communications 2 | BSPED2012
Alatzoglou Kyriaki S
, Turton James P G
, Kelberman Daniel
, McCabe Marc J
, Gregory Louise C
, Webb Emma A
, McNay David E G
, Woods Kathryn S
, Mehta Ameeta
, Dattani Mehul T
Background and aims: Congenital hypopituitarism (CH) encompasses a spectrum of phenotypes. Known genetic factors account for variable percentage of cases depending on the cohort screened. We analysed the results of genetic screening in a large cohort of patients with CH with the following aims: i) to clarify the genetic aetiology of CH ii) identify any phenotype genotype correlations and iii) propose a screening strategy.Patients and methods: Over 15 yea...