Evaluation of impact of steroid replacement treatment on bone health in children with 21-hydroxylase deficiency

Delvecchio, Maurizio; Soldano, Lucia; Lonero, Antonella; Ventura, Alessandro; Giordano, Paola; Grano, Maria; Brunetti, Giacomina; Faienza, Maria Felicia

doi:10.1007/s12020-014-0332-9

Cited by 12 publications

(9 citation statements)

References 22 publications

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“…However, although DXA is the gold standard for osteoporosis diagnosis, numerous studies have demonstrated the efficiency of QUS in the screening and the early diagnosis of osteoporosis [ 49 , 50 , 51 ]. Furthermore, QUS and DXA parameters correlate between them [ 52 , 53 ].…”

Section: Discussionmentioning

confidence: 99%

Shedding “LIGHT” on the Link between Bone and Fat in Obese Children and Adolescents

Brunetti

Faienza

Piacente

et al. 2020

IJMS

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Obesity may affect bone health, but literature reports are contradictory about the correlation of body mass index (BMI) and bone markers. LIGHT, one of the immunostimulatory cytokines regulating the homeostasis of bone and adipose tissue, could be involved in obesity. The study involved 111 obese subjects (12.21 ± 3.71 years) and 45 controls. Patients underwent the evaluation of bone status by quantitative ultrasonography (QUS). LIGHT amounts were evaluated in sera by ELISA, whereas its expression on peripheral blood cells was evaluated by flow cytometry. Osteoclastogenesis was performed by culturing peripheral blood mononuclear cells (PBMCs) with or without anti-LIGHT antibodies. Obese patients showed significant high BMI-standard deviation score (SDS), weight-SDS, and Homeostatic model assessment for insulin resistance (HOMA-IR) that negatively correlated with the reduced Amplitude Dependent Speed of Sound (AD-SoS)-Z-score and Bone Transmission Time (BTT-Z)-score. They displayed significantly higher serum levels of LIGHT compared with controls (497.30 ± 363.45 pg/mL vs. 186.06 ± 101.41 pg/mL, p < 0.001). LIGHT expression on monocytes, CD3+-T-cells, and neutrophils was also higher in obese patients than in the controls. Finally, in PBMC cultures, the addition of anti-LIGHT antibodies induced a significant osteoclastogenesis inhibition. Our study highlighted the high serum levels of LIGHT in obese children and adolescents, and its relationship with both the grade of obesity and bone impairment.

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Section: Discussionmentioning

confidence: 99%

Shedding “LIGHT” on the Link between Bone and Fat in Obese Children and Adolescents

Brunetti

Faienza

Piacente

et al. 2020

IJMS

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“…Decreased bone mineral density and more fractures have been shown in some studies of CAH, but was absent in others [172][173][174][175][176][177][178]. Bone mineral density and fractures in patients with P30L mutations have not been studied in detail.…”

Section: Bone Healthmentioning

confidence: 99%

Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

2020

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Despite numerous studies in the field of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, some clinical variability of the presentation and discrepancies in the genotype/phenotype correlation are still unexplained. Some, but not all, discordant phenotypes caused by mutations with known enzyme activity have been explained by in silico structural changes in the 21-hydroxylase protein. The incidence of P30L mutation varies in different populations and is most frequently found in several Central and Southeast European countries as well as Mexico. Patients carrying P30L mutation present predominantly as non-classical CAH; however, simple virilizing forms are found in up to 50% of patients. Taking into consideration the residual 21-hydroxulase activity present with P30L mutation this is unexpected. Different mechanisms for increased androgenization in patients carrying P30L mutation have been proposed including influence of different residues, accompanying promotor allele variability or mutations, and individual androgene sensitivity. Early diagnosis of patients who would present with SV is important in order to improve outcome. Outcome studies of CAH have confirmed the uniqueness of this mutation such as difficulties in phenotype classification, different fertility, growth, and psychologic issues in comparison with other genotypes. Additional studies of P30L mutation are warranted.

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“…In addition, these studies showed inconsistent findings between bone mineral density (BMD), disease duration, glucocorticoid type and daily dose. The few studies regarding the skeletal health of adult CAH patients also showed controversial findings: some reported no significant differences in BMD between patients with CAH and controls, whereas others found reduced BMD in all or some subpopulations of CAH patients, for example in post‐menopausal CAH women . The inconsistent findings of these studies may be related to heterogeneous populations especially with respect to age and glucocorticoid regimes, and different methods evaluating BMD.…”

Section: Introductionmentioning

confidence: 99%

Bone mineral density and fractures in congenital adrenal hyperplasia: Findings from the dsd‐LIFE study

Riehl¹,

Reisch²,

Roehle

et al. 2020

Clinical Endocrinology

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Background In patients with congenital adrenal hyperplasia (CAH) type and doses of glucocorticoids used as well as sex hormone secretion during puberty have important actions on bone mineral density (BMD) in adulthood. Aim To evaluate BMD in adult CAH patients depending on current glucocorticoid therapy and on androgen levels in adulthood and at age 16 years. Methods We included 244 CAH patients from the dsd‐LIFE cohort (women n = 147, men n = 97; salt‐wasting n = 148, simple‐virilizing n = 71, nonclassical n = 25) in which BMD and bloods were available. Clinical and hormonal data at age 16years were retrieved from patients' files. Results Simple‐virilizing women showed lower BMD compared to salt‐wasting women at trochanter (0.65 ± 0.12 vs 0.75 ± 0.15 g/cm2; P < .050), whole femur T‐score (−0.87 ± 1.08 vs −0.16 ± 1.24; P < .05) and lumbar T‐score (−0.81 ± 1.34 vs 0.09 ± 1.3; P < .050). Fracture prevalence did not differ significantly between the CAH groups. Prednisolone vs. hydrocortisone only therapy caused worse trochanter Z‐score (−1.38 ± 1.46 vs −0.47 ± 1.16; P < .050). In women lumbar spine, BMD correlated negatively with hydrocortisone‐equivalent dose per body surface (r2 = 0.695, P < .001). Furthermore, BMI at age 16years correlated positively with lumbar spine T‐score (r2 = 0.439, P = .003) and BMD (r2 = 0.420, P = .002) in women. The androstenedione/testosterone ratio at age 16years correlated positively with lumbar spine Z‐score in women (r2 = 0.284, P = .024) and trochanter Z‐score in men (r2 = 0.600, P = .025). Conclusion Higher glucocorticoid doses seemed to cause lower BMD especially in women. Prednisolone appeared to have more detrimental effects on BMD than hydrocortisone. Higher glucocorticoid doses (lower androstenedione/testosterone ratio) during adolescence may cause lower BMD in adulthood.

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Evaluation of impact of steroid replacement treatment on bone health in children with 21-hydroxylase deficiency

Cited by 12 publications

References 22 publications

Shedding “LIGHT” on the Link between Bone and Fat in Obese Children and Adolescents

Shedding “LIGHT” on the Link between Bone and Fat in Obese Children and Adolescents

Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Bone mineral density and fractures in congenital adrenal hyperplasia: Findings from the dsd‐LIFE study

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