ESPE Abstracts

Background: Kocher-Debre Semelaigne syndrome (KDSS) is a rare form of myopathy in patients with longstanding moderate-to-severe hypothyroidism.Objective and hypotheses: We present the case of 7-year-old boy who developed muscular pseudohypertrophy, associated with long-term untreated hypothyroidism.Method: A 7-year-old boy presented with growth failure, lassitude and lethargy. He was born small for gestational age at 28 weeks gesta...

Background: Klinefelter syndrome (KS) is the most common cause for hypergonadotropic hypogonadism. Patients with 47,XXY karyotype often have increased gonadotropin levels at early puberty, which stay high during adolescent and adult life due to hyalinisation of seminiferous tubules of testes. We report a clinical case of 47, XXY KS patient with low gonadotropin levels.Clinical case: A boy was referred to an endocrinologist at the age of 12,5 years due to...