[Relationship between hypothyroidism and cholesterol out of the records of 1756 patients]. / Ipotiroidismo e colesterolo: analisi retrospettiva di una casistica trentennale di 1756 pazienti.

BACKGROUND: Subclinical hypothyroidism (SH) is settled whenever high levels of serum thyroid-stimulating hormone (TSH) are detected, whereas free thyroid hormone levels are within the normal range. Benefits and risks of therapy for SH have been debated for 2 decades. However, consensus has not yet been achieved. Besides preventing the progression to overt hypothyroidism, the decision of undertaking replacement therapy in SH is made mainly by basing on the risk of metabolic (dyslypidemia) and subsequent cardiovascular complications. MATERIALS AND METHODS: A series, made up of 1756 patients (mean age 42,8±16,8, range 0,5-94) and filed from 1984 to 2013, was studied retrospectively. 169 patients were affected by clinical (overt) hypothyroidism (IC: TSH >40). 1587 patients were affected by SH, out of whom 1121 were mild (TSH <10) and 466 medium (TSH ≥ 10 ≤40). The series of patients was properly followed-up. The mean follow-up time was 6 years. In all patients TSH, Ft4, and total cholesterol were evaluated basally and after appropriate (TSH normalized) medical therapy. RESULTS: By medical replacement treatment, clinical hypothyroidism (CI) related hypercholesterolemia decreased significantly in 28%. In SH, the baseline serum cholesterol levels were wide. However, replacement treatment did not reduce such levels. No major cardiovascular accident occurred to any patient over the follow-up period. CONCLUSIONS: Hypercholesterolemia is certainly due to CI, therapy reduces cholesterol levels that not always fall below 200 mg/dl and this condition persists over time. SH is not characterized by hypercholesterolemia. Cholesterol levels in these patients are variable equal to the normal people and can not be reduced with thyroxine.

[MODY 3 correlations between the genotype and clinical manifestations of diabetes]. / Correlazioni fra genotipo e manifestazioni cliniche del diabete in una famiglia affetta da MODY3.

We analyzed the mutations identified in a family affected by Maturity-Onset Diabetes of the Young (MODY3), and searched for correlations between the genotype and clinical manifestations of diabetes. In 4 of 9 subjects we have demonstrated a heterozygous missense mutation in hepatocyte nuclear factor 1 alfa (HNF1α). The missense mutation, caused by a G>A transition at nucleotide 815 of exon 4 (c.815G>A), resulted in the substitution of arginine with histidine at codon 272 (p.Arg272His). This mutation occurs in the DNA binding domain of HNF1α. Heterogenity of clinical characteristic in patients was evident. Variability in age of onset, presence of obesity and evolution time was present. In conclusion, clinical presentation of diabetes is otherwise atipical for the assumed etiology. Thus, the diagnosis of MODY should be raised in various clinical circumstances. Molecular diagnosis has important consequences in terms of prognosis, family screening, and therapy.