RESUMO
Recombinant human growth hormone (rhGH) treatment is an established management in patients with Prader-Willi syndrome (PWS), with growth promotion and improvement in body composition and possibly the metabolic state. We compared anthropometric characteristics, insulin-like growth factor 1 (IGF1) levels, metabolic parameters and the bone age/chronological age index (BA/CA) in 147 children with PWS, divided according to age of rhGH start into four groups, corresponding to nutritional phases in PWS. We analysed four time points: baseline, rhGH1 (1.21 ± 0.81 years), rhGH2 (3.77 ± 2.17 years) and rhGH3 (6.50 ± 2.92 years). There were no major differences regarding height SDS between the groups, with a higher growth velocity (GV) (p = 0.00) and lower body mass index (BMI) SDS (p < 0.05) between the first and older groups during almost the whole follow-up. IGF1 SDS values were lower in group 1 vs. other groups at rhGH1 and vs. groups 2 and 3 at rhGH2 (p < 0.05). Glucose metabolism parameters were favourable in groups 1 and 2, and the lipid profile was comparable in all groups. BA/CA was similar between the older groups. rhGH therapy was most effective in the youngest patients, before the nutritional phase of increased appetite. We did not observe worsening of metabolic parameters or BA/CA advancement in older patients during a comparable time of rhGH therapy.
RESUMO
BACKGROUND: The term hypoparathyroidism refers to a group of disorders in which a relative or absolute deficiency of PTH leads to hypocalcemia and hyperphosphatemia. THE AIM OF THE STUDY: Was to evaluate clinical symptoms in patients with hypoparathyroidism during normocalcemic period and to try to establish its etiology (electrolyte imbalance, organic central nervous system lesions, coincidence of tetany and epilepsy). MATERIAL AND METHODS: The analysis included a group of 14 patients with hypoparathyroidism: 3 boys and 11 girls, aged from 12 months to 31 years (median 16.11 years), with duration of the disease 12 months to 26 years (median 10.9 years). In all the patients, the diagnosis was confirmed based on history, physical examination, results of biochemical and hormonal laboratory tests, radiological and neurological examinations. All the patients were followed by endocrinology specialists. Low phosphorus diet, calcium, magnesium, active vitamin D supplementation and management of other endocrine disorders were employed. RESULTS: In 9 patients, pseudo-hypoparathyrodism was diagnosed; of this number, in 8 children, type Ia Albright syndrome was confirmed. Five patients were diagnosed as true hypoparathyroidism, two girls in this group were found to have autoimmune hypoparathyroidism as a component of the autoimmune polyglandular syndrome type 1, 2 others were diagnosed in infancy as congenital hypoparathyroidism and 1 girl had true hypoparathyroidism as a component of Kearns-Sayre syndrome. Five patients were referred to neurological department with epilepsy suspicion. In the medical history, 9 patients had generalized epileptic seizures, moreover, 1 girl manifested absence attack and balance disturbances. In 3 patients, EEG demonstrated changes typical of generalized seizure activity. In 5 patients on anti-epileptic management, additional calcium and active vitamin D treatment was initiated, allowing for achieving seizure remission. CT of the head and pituitary gland showed calcification foci in the central nervous system in 9 patients. Five patients of the eight individuals with Albright syndrome showed mild or moderate mental retardation confirmed by psychological testing. CONCLUSIONS: 1. Hypoparathyroidism leads to functional and morphological CNS changes. 2. Restoring metabolic balance through administration of calcium and active vitamin D preparations may obliterate the need for anti-epileptic treatment. 3. Calcification foci in the central nervous system seem to be associated with the duration of hypoparathyroidism. 4. No correlation has been observed between the extent and location of calcification foci and neurological abnormalities. 5. Hypoparathyroid patients with calcification foci in CSN require long-term multidisciplinary medical management and neurophysiological, imaging and neuropsychological monitoring.