Hypothyroid Myopathy-A Rare Case from Paediatric Practice.

Hypothyroid myopathy is uncommon in childhood. Severe hypothyroid myopathy observed in paediatric practice is a part of Kocher-Debré-Semelaigne syndrome (KDSS, OR-PHA:2349), a rare disorder characterised by muscular pseudohypertrophy and long-standing moderate-to-severe hypothyroidism. We present a pubertal girl with KDSS diagnosed with severe myopathy and significantly limited mobility and progressively increasing pains in the lumbar area, hip joints, and the lower limbs.

First results of the growth disorders related twinning programme Partners4Growth implemented at the tertiary university pediatric endocrinology clinics in Bulgaria.

Objectives: Early diagnosis of childhood growth disorders, their timely and proper treatment are important for better outcomes.The aim of the present study was to assess the results of the first 18 months of the growth disorders related twinning programme "Partners4Growth" implemented at all tertiary university pediatric endocrinology clinics in Bulgaria.

Methods: In 2019, Partners4Growth started operation at 7 centres (4 experienced and 3 twin centres) with the main aim of aligning their practices in the shortest possible time.

Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation.

Background: Congenital hyperinsulinism (CHI) can present with considerable clinical heterogeneity which may be due to differences in the underlying genetic etiology. We present two siblings with hyperinsulinaemic hypoglycaemia (HH) and marked clinical heterogeneity caused by compound heterozygosity for the same two novel ABCC8 mutations.

Case Presentation: The index patient is a 3-year-old boy with hypoglycaemic episodes presenting on the first day of life.