hrp0082p2-d3-554 | Puberty and Neuroendocrinology (2) | ESPE2014

Predominantly Matrilineal Inheritance of Familial Precocious Puberty Suggests an Underlying Imprint Anomaly

Durand Adelaide , Brauner Raja , Bashamboo Anu , McElreavey Ken

Background: The age of onset of puberty is known to be influenced by poorly understood genetic and environmental factors. Familial forms of precocious puberty suggest the involvement of autosomal genetic factors.Objective and hypotheses: We evaluated the mode of inheritance of precocious puberty in a large series of familial cases of both central precocious puberty (CPP) and advanced puberty.Method: A retrospective, single-centre s...

hrp0084p3-585 | Adrenals | ESPE2015

Living with Adrenal Hyperplasia for Children in Primary School between 6 and 11 Years; Educational Innovation and Design of a Learning Tool for Therapeutic Education

Pienkowski Catherine , Cartault Audrey , Durand Adelaide , Ajaltouni Zeina , Jouret Beatrice , Tauber Maithe

Background: Congenital adrenal hyperplasia (CAH) is a rare chronic disease diagnosed and treated from birth. Hormone replacement therapy is essential to lead a normal life and must be adapted to stress. Poor compliance to treatment or inefficacy is life threatening leading to high risk of by dehydration and hypoglycaemia.Objective: The objective of therapeutic education sessions is based on the skills needed for regular intake of pills and recognition of...