Searchable abstracts of presentations at key conferences in endocrinology

ea0023p22 | (1) | BSPED2009

Nepalese StAR

Moon Rebecca , Achermann John , Lin Lin , Wickramasuriya Nalin , Walker Joanna

Introduction and Case report: Congenital adrenal hyperplasia (CAH) is a heterogenous group of conditions resulting from inborn errors of steroidogenesis, of which over 95% are due to 21-hydroxylase deficiency.We present a 15-year-old Nepalese female, who was referred to the endocrine clinic for management of CAH. This diagnosis had been at 11 months of age, whilst resident in Hong Kong, when she presented acutely with vomiting and seizures. She had since...

ea0030p8 | (1) | BSPED2012

The effect of homozygosity versus heterozygosity for IGFALS gene mutations on growth, bone strength and insulin resistance

Hogler Wolfgang , Martin David , Crabtree Nicola , Barrett Timothy , Frystyk Jan , Tomlinson Jeremy , Metherell Lou , Rosenfeld Ron , Hwa Vivian , Rose Stephen , Walker Joanna , Shaw Nick

Background: Acid-labile subunit (ALS) deficiency inhibits ternary complex formation leading to primary IGF1 deficiency and short stature. Potential metabolic consequences such as diabetes and low bone mass are not well studied.Objective: This study measured insulin sensitivity, lipid profile, bone density and structure in members of 4 affected families and explore possible gene-dose effects.Methods: Four patients (7–21 years) ...

ea0025oc5.3 | Reproduction and fetal programming | SFEBES2011

Mutations in the gene encoding the fibroblast growth factor 8 (FGF8) are associated with complex midline defects including recessive holoprosencephaly and hypothalamo-pituitary dysfunction

McCabe Mark , Gaston-Massuet Carles , Tziaferi Vaitsa , Gregory Louise , Alatzoglou Kyriaki , Signore Massimo , Farooqi Sadaf , Raza Jamal , Walker Joanna , Kavanaugh Scott , Tsai Pei-San , Pitteloud Nelly , Martinez-Barbera Juan-Pedro , Dattani Mehul

Loss-of-function mutations in FGF8 in humans have been associated with Kallmann syndrome (KS), which is characterised by the combination of hypogonadotrophic hypogonadism with anosmia, suggesting that FGF8 is critical for GnRH neuronal development. Interestingly, hypomorphic Fgf8 mutant mice demonstrate poor telencephalic development with deletions of midbrain tissue, absence of olfactory bulbs and optic chiasm, and holoprosencephaly (HPE) with an abnormal corpus...