Searchable abstracts of presentations at key conferences in endocrinology

ea0020s3.1 | Genetics in neuroendocrinology | ECE2009

Familial hypopituitarism

Mullis Primus-E

Growth is an inherent property of life. Normal somatic growth requires the integrated function of many of the hormonal, metabolic, and other growth factors involved in the hypothalamo-pituitary-growth axis. Discovery of transcription factors responsible for pituitary cell differentiation and organogenesis has had an immediate impact on understanding and diagnosis of pituitary hormone deficiencies. Importantly, combined pituitary hormone deficiencies (CPHD) have been associated...

ea0022p510 | Growth factors | ECE2010

Growth failure in a girl harbouring digenic heterozygote mutations in the Ferroportin1-gene and the HFE-gene

Janner Marco , Fluck Christa , Galllati Sabina , Mullis Primus

Background: GH deficiency due to iron overload is well known in thalassaemic children, yet this association has not been described in children with haemochromatosis.Case report and methods: We report on a girl who was first seen at the age of 9.6 years (height 117.5 cm, −3.3 SDS, weight 21 kg, −2.5 SDS). She had a normal physical examination and was prepubertal. Target height-SDS was −0.9. Her bone age was delayed by 10 months. IGF1 was...