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. Additionally, the patient presented metabolic syndrome with severe obesity, growth retardation, and educational difficulties. In this case, adequate hormone replacement therapy with Levothyroxine evoked full recovery of the myopathy and a significant reversal in the patient's general condition. In conclusion, emphasizing the knowledge related to KDSS can improve the diagnosis and prognosis of the condition.

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. Education of twin centres' personnel was organized, equipment and methods for growth evaluation and follow-up were standardized. The approach was tested initially at one centre. At baseline and at the 18th month a questionnaire concerning diagnosis and management of recombinant human growth hormone (rhGH) requiring disorders was applied. RESULTS: A total of 104 new patients were diagnosed compared to 30 in the previous year. Of those, 91 started rhGH treatment - 65 (64 %) GH deficient, 12 (12 %) Turner syndrome, 7 (7 %) Prader-Willi syndrome patients, and 7 (7 %) born small for gestational age without postnatal catch-up, representing 35.8 % of all currently rhGH treated Bulgarian children. A better geographical coverage and more advanced diagnostic and management practices were achieved. CONCLUSIONS: Partners4Growth facilitated the alignment of the tertiary pediatric endocrinology centres competences thus leading to an improved diagnosis and treatment of growth disorders as well as better patients' access. For its short existence, the Programme increased significantly the number of new patients in the difficult times of COVID-19 pandemic thus justifying its continuation.

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. HH was diagnosed and treatment with intravenous glucose and diazoxide was initiated. Currently he has normal physical and neurological development, with occasional hypoglycaemic episodes detected following continuous fasting on treatment with diazoxide. The first-born 8-year-old sibling experienced severe postnatal hypoglycaemia, generalised seizures and severe brain damage despite diazoxide treatment. The latter was stopped at 6-months of age with no further registered hypoglycaemia. Genetic testing showed that both children were compound heterozygotes for two novel ABCC8 missense mutations p.I60N (c.179T>A) and p.G1555V (c.4664G>T). CONCLUSIONS: These ABCC8 missense mutations warrant further studies mainly because of the variable clinical presentation and treatment response.

Abnormal levels of serum antielastin antibodies in children with diabetes mellitus type 1.

Antibodies to alpha-elastin (elastin breakdown product) and elastin sequences devoid of cross-linked regions (linear elastin) are found in the serum of all human subjects and correlate with their respective serum peptide levels. The aim of this study was to determine if the serum level of antielastin antibodies (AEAbs) differs between type 1 diabetic children and nondiabetic children. Enzyme-linked immunosorbent assay was used to measure the levels of immunoglobulin (Ig)G and IgM AEAbs in the sera of 45 diabetic children (mean age 12.8 +/- 3.2 years, diabetes duration 5.3 +/- 3.6 years). Twenty-two children presented with vascular complications (group 1), whereas 23 displayed no vascular complications (group 2). The controls were 18 healthy children (mean age 11.9 +/- 2.3 years). Diabetic patients showed statistically significant higher levels of IgM alpha-AEAbs (0.82 +/- 0.26 vs 0.61 +/- 0.14, p = .0013) than the control group. In group 1, alpha-AEAbs showed statistically significant higher level than controls: IgG (0.86 +/- 0.42 vs 0.59 +/- 0.12; p = .0109) and IgM (0.88 +/- 0.24 vs 0.61 +/- 0.14; p = .0001). IgM antilinear elastin antibodies (ALEAbs) in group 1 were significantly lower than in controls (0.462 +/- 0.191 vs 0.652 +/- 0.127; p = .0009). IgG alpha-AEAbs showed correlation with microalbuminuria (r = -.26; p = .05) and IgM ALEAbs correlated with microalbuminuria (r = -.32; p = .035). IgG alpha-AEAbs correlated with neuropathy (r = -.32; p = .035). Group 1 patients displayed a correlation between IgG ALEAbs and retinopathy (r = -.48; p = .023) and IgM ALEAbs and microalbuminuria (r = .52; p = .014). Levels of AEAbs and ALEAbs can serve as immunologic markers of the extent of elastin degradation. These markers may provide a tool to study elastin metabolism and a potential clinical role for AEAbs in the pathogenesis and development of vascular complications in diabetic children.