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Article
Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region
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Article
Graves’ disease prevalence in a young population with Turner syndrome
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Article
Recovery of acanthosis nigricans under prolonged metformin treatment in an adolescent with normal weight
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Article
Unusual endocrine and somatic phenotypic abnormalities in a 14-year-old boy with classic Klinefelter syndrome (47,XXY)
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Article
Novel mutation of CYP21A2 gene (N387K) affecting a non-conserved amino acid residue in exon 9
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Article
Upper and lower motor neuron involvement as presenting manifestation of Triple A syndrome
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Article
Combined treatment with ketoconazole and cyproterone acetate in a boy with McCune-Albright syndrome and peripheral precocious puberty
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Article
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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Article
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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Article
Testicular microlithiasis heralding mixed germ cell tumor of the testis in a boy
The clinical implications of the association between testicular microlithiasis (TM) and germ cell tumor (GCT) of the testis are still debated since the natural history of incidentally discovered TM has not bee...
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Article
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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Article
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
Liver dysfunction associated with congenital hypopituitarism
