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Liver dysfunction associated with congenital hypopituitarism
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Article
Effects of Hormonal Replacement Therapy on Bone Metabolism in Young Adults with Beta-thalassemia Major
The aim of our cross-sectional study was to evaluate the effects of hormonal replacement therapy (HRT) on a population of young thalassemics in order to understand better the role of hypogonadism in the balan...
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Three-year prospective evaluation of glucose tolerance, β-cell function and peripheral insulin sensitivity in non-diabetic patients with thalassemia major
The aim of this prospective study was to evaluate the evolution of glucose tolerance (GT), insulin secretion and peripheral insulin sensitivity during a 3-yr follow-up in a homogenous population consisting of ...
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Article
Fistulectomy may not be the first choice treatment in a child with recurrent suppurative thyroiditis
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Salt wasting phenotype in a compound heterozygous girl with P482S mutation associated with a novel mutation of CYP21 gene (Q481P)
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Increased liver enzymes and hormonal therapies in girls and adolescents with Turner syndrome
Elevated liver enzymes can be seen relatively frequently in patients with Turner syndrome (TS), while the pathogenesis of this remains unclear. Our epidemiological and prospective study aimed to investigate: a...
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Congenital adenohypophysis aplasia: Clinical features and analysis of the transcriptional factors for embryonic pituitary development
Anterior pituitary agenesis (APA) has very rarely been reported. Therefore, its phenotypical and genotypical features are not well known. The aim of this study was to ascertain whether the clinical picture in ...
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Article
In Sicilian ethnic group non-classical congenital adrenal hyperplasia is frequently associated with a very mild genotype
The spectrum of mutated alleles in non-classical congenital adrenal hyperplasia (NC-CAH) has been recently reported to be very large and haplotypes may significantly differ in the different ethnic groups. In o...
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Acute suppurative thyroiditis in childhood: relative frequency among thyroid inflammatory diseases
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Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl
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Subclinical hypothyroidism: The state of the art
Subclinical hypothyroidism (SH) is a common clinical problem, particularly in adulthood and the elderly. Its prevalence is conditioned by several etiological and risk factors. The highest age- and sex-specific...
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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; ...
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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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Combined treatment with ketoconazole and cyproterone acetate in a boy with McCune-Albright syndrome and peripheral precocious puberty
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Acute suppurative thyroiditis disclosing diagnosis of thyroid cancer in a boy
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11-Hydroxylase deficiency as a cause of pre-pubertal gynecomastia ©2009, Editrice Kurtis
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Novel mutation of CYP21A2 gene (N387K) affecting a non-conserved amino acid residue in exon 9
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Recovery of acanthosis nigricans under prolonged metformin treatment in an adolescent with normal weight
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Graves’ disease prevalence in a young population with Turner syndrome
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Association of five autoimmune diseases in a young woman with Down’s syndrome