31 Result(s)
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Article
M. Wasniewska
Medicine & Public Health
Endocrinology
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Article
Open AccessTransition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project
Transition from pediatric to adult care is associated with significant challenges in patients with Turner syndrome (TS). The objective of the TRansition Age Management In Turner syndrome in Italy (TRAMITI) pro...
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MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations
MKNR3 is a paternally expressed gene whose mutations are the main cause of central precocious puberty (CPP). Protein circulating levels can be easily measured, as demonstrated in idiopathic CPP and healthy contro...
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A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype
We aimed to investigate a cohort of female and male patients with idiopathic central precocious puberty (CPP), negative for Makorin Ring Finger Protein 3 (MKRN3) defect, by molecular screening for Delta-like 1 ho...
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The effect of obesity-related allostatic changes on cardio-metabolic risk in euthyroid children
The hormonal thyroid changes related to obesity, even when in the euthyroid state, may contribute to the unfavorable cardio-metabolic profile of obese patients. In this retrospective study, we aim to investiga...
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Subclinical hyperthyroidism when presenting as initial manifestation of juvenile Hashimoto’s thyroiditis: first report on its natural history
Due to the lack of specific pediatric studies, no data are available about natural history of endogenous subclinical hyperthyroidism (SH) in childhood.
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Erratum to: Increased large artery intima media thickness in adolescents with either classical or non-classical congenital adrenal hyperplasia
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Increased large artery intima media thickness in adolescents with either classical or non-classical congenital adrenal hyperplasia
Background: Increased artery intima-media thickness (IMT) was found in adults with classical congenital adrenal hyperplasia (CAH). No data are available in patients with non-classical (NC) CAH. A...
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Increased intima media thickness at many arterial sites in obese adolescents with abdominal adiposity, insulin resistance, and high LDL-cholesterol
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Early hypertension and prolonged mineralocorticoid therapy discontinuation in a child with salt-wasting 21-hydroxylase deficiency
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Allopregnanolone levels decrease after gonadotropin-releasing hormone analog stimulation test in girls with central precocious puberty
Background: Allopregnanolone, a neuroactive steroid mainly secreted by adrenals and gonads, is a hormone that seems to play a role in precocious puberty, as demonstrated by its high basel...
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Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region
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Association of five autoimmune diseases in a young woman with Down’s syndrome
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Graves’ disease prevalence in a young population with Turner syndrome
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Recovery of acanthosis nigricans under prolonged metformin treatment in an adolescent with normal weight
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Novel mutation of CYP21A2 gene (N387K) affecting a non-conserved amino acid residue in exon 9
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11-Hydroxylase deficiency as a cause of pre-pubertal gynecomastia ©2009, Editrice Kurtis
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Acute suppurative thyroiditis disclosing diagnosis of thyroid cancer in a boy
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Combined treatment with ketoconazole and cyproterone acetate in a boy with McCune-Albright syndrome and peripheral precocious puberty
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Salt-wasting congenital adrenal hyperplasia: Genotypical peculiarities in a Sicilian ethnic group
Here we report for the first time the results of the molecular study of 17 unrelated patients with salt-wasting (SW) congenital adrenal hyperplasia (CAH) belonging to a Sicilian ethnic group, as corroborated b...
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In the Italian population sexual dimorphism affects pre-natal thyroid migration but not biochemical severity of gland ectopia and pre-natal bone maturation
The aim of the present study was to retrospectively re-evaluate a population of selected infants with congenital hypothyroidism (CH), in order to investigate whether sexual dimorphism affects: a) CH etiology; ...
