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  • 1
    Online Resource
    Online Resource
    Clinical benefits of sex steroids given as a priming prior to GH provocative test or as a growth‐promoting therapy in peripubertal growth delays: Results of a retrospective study among ENDO‐ERN centres
    Wiley ; 2021
    In:  Clinical Endocrinology Vol. 94, No. 2 ( 2021-02), p. 219-228
    Details
    In: Clinical Endocrinology, Wiley, Vol. 94, No. 2 ( 2021-02), p. 219-228
    Abstract: Sex steroids, administered as a priming before GH stimulation tests (GHST) to differentiate between growth hormone deficiency (GHD) and constitutional delay of growth and puberty (CDGP) or as growth‐promoting therapy using low‐dose sex steroids (LDSS) in CDGP, are much debated. We aimed to compare auxological outcomes of CDGP or GHD children undergoing primed or unprimed GHST and to evaluate LDSS treatment in CDGP. Design Retrospective study among three paediatric University Hospitals in Italy and UK. Methods 184 children (72 females) aged 12.4 ± 2.08 years underwent primed (/P + ) or unprimed (/P − ) GHST and were followed up until final height (FH). CDGP patients were untreated (CDG P − ) or received LDSS (CDGP + ). The cohort included 34 CDG P − /P + , 12 CDGP + /P + , 51 GHD/P + , 29 CDG P − /P − , 2 CDGP + /P − and 56 GHD/P − . FH standard deviation score (SDS), Δ SDS FH‐target height (TH) and degree of success (−1 ≤ Δ SDS FH‐SDS TH ≤ +1) were outcomes of interest. Results GHD/P + had better FH‐SDS (−0.87 vs −1.49; P  = .023) and ΔSDS FH‐TH (−0.35 vs −0.77; P  = .002) than CDGP − /P + . Overall, GHD/P + showed the highest degree of success (90%, P  = .006). Regardless of priming, both rhGH and LDSS improved degree of success compared to no treatment (89% and 86% vs 63%, P  = .0009). GHD/P + showed a trend towards a higher proportion of permanent GHD compared to GHD/P ‐ (30.43% vs 15.09%; P  = .067). Conclusion In peripubertal children, priming before GHST improves diagnostic accuracy of GHST for idiopathic GHD. LDSS treatment improves auxological outcomes in CDGP.
    Type of Medium: Online Resource
    ISSN: 0300-0664 , 1365-2265
    URL: Issue
    URL: Article
    DOI: 10.1111/cen.v94.2
    DOI: 10.1111/cen.14337
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2004597-9
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  • 2
    Online Resource
    Online Resource
    Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature
    Springer Science and Business Media LLC ; 2014
    In:  BMC Pediatrics Vol. 14, No. 1 ( 2014-12)
    Details
    In: BMC Pediatrics, Springer Science and Business Media LLC, Vol. 14, No. 1 ( 2014-12)
    Type of Medium: Online Resource
    ISSN: 1471-2431
    URL: Article
    DOI: 10.1186/1471-2431-14-272
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2014
    detail.hit.zdb_id: 2041342-7
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  • 3
    Online Resource
    Online Resource
    Non-autoimmune subclinical hypothyroidism due to a mutation in TSH receptor: report on two brothers
    Springer Science and Business Media LLC ; 2013
    In:  Italian Journal of Pediatrics Vol. 39, No. 1 ( 2013-12)
    Details
    In: Italian Journal of Pediatrics, Springer Science and Business Media LLC, Vol. 39, No. 1 ( 2013-12)
    Abstract: Subclinical hypothyroidism (SH) is a condition characterized by a mild persistent thyroid failure. The main cause is represented by autoimmune thyroiditis, but mutations in genes encoding proteins involved in TSH pathway are thought to be responsible for SH, particularly in cases arising in familial settings. Patients with the syndrome of TSH unresponsiveness may have compensated or overt hypothyroidism with a wide spectrum of clinical and morphological alterations depending on the degree of impairment of TSH-receptor (TSH-R) function. We describe the case of two brothers with non autoimmune SH carrying the same heterozygous mutation in the extracellular domain of TSH-R and presenting with different clinical, biochemical and morphological features. The first one had only a slight persistent elevation of TSH, a normal thyroid ultrasound and did never require l- thyroxine (L-T4) replacement treatment. The second one had a neonatal persistent moderate TSH levels increase associated with a thyroid gland hypoplasia and was treated with L-T4 since the first months of life. These two cases support the recent association of TSH-R mutations inheritance as an autosomal dominant pattern with variable expressivity and suggest that the decision to start replacement therapy in patients with persistent SH due to TSH resistance should be individualized.
    Type of Medium: Online Resource
    ISSN: 1824-7288
    URL: Article
    DOI: 10.1186/1824-7288-39-5
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2013
    detail.hit.zdb_id: 2084688-5
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  • 4
    Online Resource
    Online Resource
    Linear growth and intellectual outcome in children with long-term idiopathic subclinical hypothyroidism
    Oxford University Press (OUP) ; 2011
    In:  European Journal of Endocrinology Vol. 164, No. 4 ( 2011-04), p. 591-597
    Details
    In: European Journal of Endocrinology, Oxford University Press (OUP), Vol. 164, No. 4 ( 2011-04), p. 591-597
    Abstract: The treatment of children with subclinical hypothyroidism (SH) is controversial for TSH values between 4.5 and 10 mU/l. The aim of this cross-sectional, controlled study was to evaluate growth and intellectual outcome in children with persistent SH who have never been treated with levothyroxine. Design and methods Clinical and auxological parameters, thyroid function, and intellectual outcome were evaluated in 36 children with persistent SH at the age of 9.7±0.6 (range 4–18.0) years. Children had been followed longitudinally for 3.3±0.3 (range 2.0–9.3) years, from first diagnosis of SH until enrollment in the study. Thirty-six age- and sex-matched children were enrolled in the study as controls. Results At study entry, height (−0.8±0.2 SDS), bone age/chronological age (BA/CA ratio 0.92±0.6), and body mass index (BMI −0.1±0.2 SDS) in SH children were normal. Despite long-term duration of SH, none of these parameters showed a worsening with respect to height (−0.7±0.2 SDS), BA/CA (0.97±0.03), and BMI (−0.1±0.2) at the time of first SH detection. None of the children showed overt signs or symptoms of hypothyroidism during the follow-up. Verbal (99.1±2.2), performance (100.4±1.9), and full-scale (99.7±1.9) intelligence quotient (IQ) scores in SH children were normal and comparable to those of controls. No relationship was detected between IQ scores and the degree or duration of SH. Conclusions Persistent SH in children is not associated with alterations in growth, bone maturation, BMI, and cognitive function or other complaints that could be ascribed to SH even after several years without therapeutic intervention.
    Type of Medium: Online Resource
    ISSN: 0804-4643 , 1479-683X
    URL: Article
    DOI: 10.1530/EJE-10-0979
    RVK:
    WA 15000
    Language: Unknown
    Publisher: Oxford University Press (OUP)
    Publication Date: 2011
    detail.hit.zdb_id: 1485160-X
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  • 5
    Online Resource
    Online Resource
    Bone health in children with long–term idiopathic subclinical hypothyroidism
    Springer Science and Business Media LLC ; 2012
    In:  Italian Journal of Pediatrics Vol. 38, No. 1 ( 2012-12)
    Details
    In: Italian Journal of Pediatrics, Springer Science and Business Media LLC, Vol. 38, No. 1 ( 2012-12)
    Abstract: Subclinical hypothyroidism (SH) is a relatively common condition characterized by a mild persistent thyroid failure. The management of children with SH is still a controversial issue and the decision to treat with L-thyroxine represents a clinical dilemma. Thyroid hormone and TSH play an important role in skeletal growth and bone mineral homeostasis. Aim To evaluate whether untreated idiopathic SH may affect bone health in childhood and to compare two different diagnostic tools such as dual-energy X-ray densitometry (DXA) and quantitative ultrasound (QUS). Patients and Methods Twenty-five children and adolescents (11 males) aged 9.8 ± 3.5 years (range 4.2-18.7) with untreated idiopathic SH were enrolled in the study. SH was diagnosed on the basis of normal FT4 levels with TSH concentrations between 4.2 and 10 mU/l. Children have been followed for 3.3 ± 0.3 years from the time of SH diagnosis. Twenty-five healthy children, age- and sex-matched, were enrolled as controls. Patients and controls underwent DXA to evaluate lumbar spine bone mineral density (BMD) and QUS at proximal phalanges of the non-dominant hand to assess bone quality, measured as amplitude-dependent speed of sound (Ad-SoS) and bone transmission time (BTT). Results Mean BMD Z-score was −0.4 ± 1.36 in patients and −0.2 ± 1.2 in controls. Mean Ad-SoS Z-score was 0.01 ± 1.0 in patients and 0.1 ± 1.2 in controls and mean BTT Z-score was −0.03 ± 0.8 and 0.04 ± 1.1 respectively. All values were within the normal range, both in patients and in controls. There were no statistically significant differences between the two groups. Conclusion Bone health, evaluated by lumbar spine DXA and phalangeal QUS, is not impaired in our children, despite long-term duration of idiopathic SH. Data about bone status provided by QUS are comparable to those provided by DXA. Therefore, QUS may represent a good, cheaper and safe screening test for bone evaluation in children with SH.
    Type of Medium: Online Resource
    ISSN: 1824-7288
    URL: Article
    DOI: 10.1186/1824-7288-38-56
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2012
    detail.hit.zdb_id: 2084688-5
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