hrp0095p1-420 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Skeletal phenotype in patients with the monogenic Mulibrey nanism disorder

Karlberg Susann , Toiviainen-Salo Sanna , Lipsanen-Nyman Marita , Mäkitie Outi

Background: Mulibrey nanism (MUL) is a monogenic growth disorder with typical craniofacial features, perimyocardial heart disease, infertility and predisposition to tumors. MUL is caused by mutations in the TRIM37 gene encoding TRIM37 protein possessing E3 ubiquitin-ligase activity.Objective and hypotheses: MUL patients have pre- and postnatal growth failure with an average birth length SDS of -3.1 and birth weight SDS o...

hrp0082p2-d2-379 | Fat Metabolism & Obesity (1) | ESPE2014

Severe Childhood-Onset Obesity and Testicular Function After Puberty

Laakso Saila , Viljakainen Heli , Lipsanen-Nyman Marita , Turpeinen Ursula , Saukkonen Tero , Makitie Outi

Background: Obesity has in males been associated with reduced testosterone levels during and after puberty. However, the onset and progress of puberty into fertility in obese boys remain inadequately evaluated.Objective and hypotheses: We aimed to study testicular function at the end of pubertal development (15–24 years) in males with severe childhood-onset obesity (height-adjusted relative weight exceeding 160% before the age of 7 years).<p cla...