10 Result(s)
within
A Cassio
Internal Medicine
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Article
Gonadal and adrenal secretion of dehydroepiandrosterone sulfate in prepubertal and pubertal subjects
The Authors have evaluated the relationship between the secretion of dehydroepiandrosterone sulfate (DHA-S) by the adrenal glands and by the gonads in a group of prepubertal and pubertal subjects (“short norma...
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Neonatal screening for 21-hydroxylase deficiency: a microfilter paper method for 17-α-hydroxyprogesterone assay
A micromethod for measuring 17a-hydroxyprogesterone in blo’od collected on filter paper has been developed. Our method is rapid, easy and has the specificity, accuracy and precisoin of the radioimmunoassay in ...
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Neonatal Screening Programme for Congenital Adrenal Hyperplasia in a Homogenous Caucasian Population
The considerable variation in the reported incidence of congenital adrenal hyperplasia (CAH 1, McKusick 20191) (Childs et al 1956; Prader, 1958; Hubble, 1966; Rosenbloom and Smith, 1966; Hirschfield and Fleshman,...
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Neonatal screening programme for congenital adrenal hyperplasia in a homogenous Caucasian population
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Article
Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: Clinical, immunological and genetic patterns
Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1 (APS-1), is a very rare disease. Diagnosis requires the presence of at least two ...
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Article
The Italian screening program for primary congenital hypothyroidism: Actions to improve screening, diagnosis, follow-up, and surveillance
The Italian screening program for primary congenital hypothyroidism (CH) is an integrated system including neonatal screening, diagnosis, treatment, follow-up, and nationwide surveillance of the disease. The a...
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Relationships between thyroid function and autoimmunity with metabolic derangement at the onset of type 1 diabetes: a cross-sectional and longitudinal study
Type 1 diabetes (T1DM) is an autoimmune disease often associated with thyroid abnormalities.
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Extreme hyperosmolarity and severe ketoacidosis in a child with type 1 diabetes mellitus at onset safely treated with current guidelines
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Article
Open AccessStochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism
The elevated frequency of discordance for congenital hypothyroidism (CH) phenotype between monozygotic twins suggests the involvement of non-mendelian mechanisms. The aim of the study was to investigate the ro...
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Article
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...
