Final Height in Patients Perinatally Infected with the Human Immunodeficiency Virus

Stagi, Stefano; Galli, Luisa; Cecchi, Costanza; Chiappini, Elena; Losi, Stefania; Gattinara, C.G.; Gabiano, Clara; Tovo, Pier-Angelo; Bernardi, Stefania; Chiarelli, Francesco; Martino, Maurizio de

doi:10.1159/000281018

Cited by 34 publications

(40 citation statements)

References 64 publications

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“…SDS values were calculated according to the following formula: (patient valuemean of age-related reference value)/standard deviation of the age-related reference value. 20 Pubertal staging was carried out according to Tanner and Whitehouse's criteria using an orchidometer for the boys. 21 All laboratory measurements were performed on blood samples collected after an overnight fast and on a 24-hr urinary collection.…”

Section: Study and Laboratory Methodsmentioning

confidence: 99%

Bone mineral status and metabolism in patients with Williams-Beuren syndrome

Stagi¹,

Manoni²,

Scalini³

et al. 2016

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ObJECTIvE: To evaluate bone mineral status and metabolism in a cohort of patients with Williams-beuren syndrome (WbS). paTIENTS: Thirty-one children (15 females, 16 males; mean age 9.6±2.74 years) and 10 young adults (6 females, 4 males; mean age 21.4±5.11 years) with WbS were cross-sectionally evaluated and compared with two age-, sex-, and body-sizematched paediatric (155 subjects, 75 females and 80 males; mean age 9.7±2.93 years) and adult (50 subjects, 30 females and 20 males; mean age 22.3±5.42 years) healthy controls. mEaSUREmENTS: We evaluated ionised and total calcium, phosphate, parathyroid hormone (pTh), 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase levels, and urinary deoxypyridinoline concentrations. We also calculated the phalangeal amplitudedependent speed of sound (aD-SoS) and the bone transmission time (bTT) z-scores. RESUlTS: WbS patients showed a significantly reduced aD-SoS z-score (p <0.001) and bTT z-score (p <0.001) compared with the controls. This finding persisted when we divided the sample into paediatric and adult patients. WbS patients also had significantly higher ionised (p <0.001) and total calcium (p <0.001) levels as well as higher pTh levels (p <0.001) compared with the controls. Furthermore, WbS children and adolescents had significantly lower serum osteocalcin levels (p <0.001) and urinary deoxypyridinoline concentrations (p <0.001) than controls. CONClUSIONS: WbS subjects exhibit a significant reduction in bone mineral status and impaired bone metabolism. These findings point to the need for close monitoring of WbS patients.

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Section: Study and Laboratory Methodsmentioning

confidence: 99%

Bone mineral status and metabolism in patients with Williams-Beuren syndrome

Stagi¹,

Manoni²,

Scalini³

et al. 2016

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“…For the girls aged >8 years and the boys aged >9 years, the age of pubertal onset was defined by the records of the paediatrician or family doctor as the age at durable Tanner B2 stage for females or a testicular volume >4 ml for males (G2). The age at which this occurred was taken as the mid-age between the previous clinic visit when the child was still prepubertal and the clinic visit when the child was G2/B2, as previously reported [20]. …”

Section: Methodsmentioning

confidence: 99%

Parathyroid Hormone Levels in Healthy Children and Adolescents

Stagi¹,

Cavalli²,

Ricci³

et al. 2015

Horm Res Paediatr

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Background: Parathyroid hormone (PTH) is important in the assessment of calcium metabolism disorders. However, there are few data regarding PTH levels in childhood and adolescence. Aim: The aim of this study was to determine PTH levels in a large group of healthy children and adolescents. Patients and Methods: We retrospectively evaluated PTH levels in 1,580 healthy Caucasian children and adolescents (849 females, 731 males, aged 2.0-17.2 years) with 25-hydroxyvitamin D [25(OH)D] levels ≥30 ng/ml. All subjects with genetic, endocrine, hepatic, renal, or other known diseases were excluded. Results: The serum intact PTH concentration (median and inter-quartile range) was 23.00 (15.00-31.60) pg/ml. In our population, the mean 25(OH)D value was 34.27 ± 4.12 ng/ml. The median PTH concentration in boys was 23.00 (15.00-32.00) pg/ml, whereas in girls it was 23.10 (15.00-31.10) pg/ml. However, in girls, PTH levels significantly increased in the age group of 8.1-10.0 years compared to the age group of 2.1-4.0 years (p < 0.0001), whereas in boys it significantly increased in the age groups of 10.1-12.0 years (p < 0.0001) and 12.1-14.0 years (p < 0.0001), leading to the hypothesis of a relationship between PTH level and pubertal and bone growth spurts. Conclusions: PTH levels in healthy children and adolescents covered a narrower range than the adult values. Obtaining reference values of PTH in childhood and adolescence could aid in the estimation of appropriate values of bone metabolites.

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“…As previously described [22], height and BMI were considered as standard deviation scores (SDS), which were calculated according to the following formula: patient value − mean of age-related reference value/SD of the age-related reference value. …”

Section: Methodsmentioning

confidence: 99%

“…Pubertal growth was defined as growth occurring between the onset of puberty and the final height attained by the individual [22]. …”

Section: Methodsmentioning

confidence: 99%

Thyroid Function in Rett Syndrome

Stagi

Cavalli²,

Congiu³

et al. 2015

Horm Res Paediatr

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Introduction: Thyroid function in Rett syndrome (RTT) has rarely been studied with unanimous results. However, this aspect is of great concern regarding the effect thyroid hormones (TH) have on proper mammalian brain development. Objective: To evaluate the prevalence of abnormalities of thyroid function in a cohort of children with RTT. Patients and Methods: Forty-five consecutive Caucasian girls (mean age: 8.6 ± 5.3 years, range: 2.0-26.1) meeting the clinical criteria for RTT were recruited. In all of the subjects, we evaluated the serum concentrations of free-T₃ (FT₃), free-T₄ (FT₄), thyroid-stimulating hormone (TSH), thyroperoxidase autoantibodies, thyroglobulin autoantibodies (TgA), and TSH receptor (TSHr) autoantibodies. The results were compared with a group of 146 age-matched healthy Caucasian children and adolescent girls (median age: 9.5 years, range: 1.8-14.6) from the same geographical area. Results: Mean FT₃ and TSH levels were not significantly different between the RTT patients and controls. Nevertheless, FT₄ levels were significantly higher in RTT patients than in controls (p < 0.005). In particular, 17.7% showed FT₄ levels higher than the upper reference limit (vs. 0.7% of controls, p < 0.0001), whereas 12 patients (26.7%) showed higher FT₃ levels than the upper reference limit, significantly differing in respect to controls (2.0%, p < 0.0001). Finally, 5 patients (11.1%) showed higher levels of TSH, statistically differing from the control subjects (2.0%, p < 0.0001). However, evaluating the patients on the basis of different RTT genotype subgroups, patients with CDKL5 deletions showed significantly higher FT₄ values than patients with MeCP2 deletions (p < 0.05). On the other hand, patients with other types of MeCP2 mutations also showed FT₄ levels significantly higher than patients with MeCP2 deletions (p < 0.05). In fact, out of 8 patients with FT₄ levels higher than the upper references limit, 3 of them presented with CDKL5 deletions (3 patients, 37.5%), 4 (50%) had MeCP2 mutations, and 1 (12.5%) belonged to the subgroup of MeCP2 deletions. However, when analyzing FT₃ levels of the 12 patients showing higher FT₃ levels than the upper references limit, 6 (50%) belonged to the subgroup with MeCP2 mutations, 4 (33.3%) to the subgroup with MeCP2 deletions, and 2 (16.7%) to the subgroups with CDKL5 deletions. Furthermore, no patient with RTT was positive for antithyroglobulin autoantibodies, antithyroid peroxidase, or anti-TSHr, with no statistical differences in respect to the controls. L-thyroxine treatment was not necessary for any patient. Conclusions: Abnormalities of thyroid function are not rare in RTT. The possible relationship between these disorders and the RTT phenotype should be confirmed and studied. Children with RTT should be screened for potential thyroid dysfunction.

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Final Height in Patients Perinatally Infected with the Human Immunodeficiency Virus

Cited by 34 publications

References 64 publications

Bone mineral status and metabolism in patients with Williams-Beuren syndrome

Bone mineral status and metabolism in patients with Williams-Beuren syndrome

Parathyroid Hormone Levels in Healthy Children and Adolescents

Thyroid Function in Rett Syndrome

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