Menarcheal age in celiac disease may not be delayed and may be irrespective of age at diagnosis and dietary management.

The aim of the present study was to evaluate the role played by age at diagnosis of celiac disease (CD), dietary management and menarcheal familiar antecedents in conditioning menarcheal age (MA) in CD. This study covers a population of 94 menarcheal adolescents with untreated CD, whose MA was compared with that of 3 control populations: the 1st consisting of 117 early-treated and compliant CD girls, the 2nd represented by their non-celiac mothers, and the 3rd consisting of 280 healthy adolescents. Average MA of the girls with post-menarcheal diagnosis of CD was superimposable to that of the patients with pre-menarcheal diagnosis and was no different from the one of their mothers or that of healthy controls. The prevalence of delayed menarche was similar in the patients with either pre-menarcheal or post-menarcheal diagnosis of CD. A direct correlation between patients' MA and that of their mothers was detected in both groups of CD patients. We conclude that: a) untreated CD may not be associated with menarcheal retardation; b) MA in CD is significantly affected by maternal MA and may be irrespective of age at diagnosis and dietary management.

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 rates are in women over 60. SH may be associated with manifestations of mild thyroid failure, which may reverse under levothyroxine (L-T4) therapy. The risk of progression to overt hypothyroidism is distinctly higher in cases with underlying thyroid disease. A population routine screening is not generally recommended, but screening is encouraged in high-risk groups. L-T4 therapy may be indicated in subjects with TSH levels which are repeatedly and consistently elevated (>10 microIU/ml) and may be considered in those with TSH ranging between 4.5-5.5 and 10 microIU/ml, particularly if anti-thyroid antibodies are positive and/or hypothyroid symptoms are present. Treatment should be based, at least initially, on L-T4 low doses.

Neurocognitive profile in Turner's syndrome is not affected by growth impairment.

Turner's syndrome (TS) is a chromosomal disorder that results from the loss of the entire or a part of the X-chromosome and occurs in 1/2,500 female births. According to the majority of specific reports, intelligence in TS is generally found to be normal and the prevalence of mental retardation does not seem to be increased in TS except for those patients with a small ring X-chromosome. We evaluated 33 girls with TS with chronological age from 6-18 years. Intellectual assessment included the WISC III and the WAIS-R scales. Our results showed: 1) mean full scale intelligence quotient (FSIQ) was significantly lower than expected based on normative data (p < 0.0005); 2) no correlation was present between height and general intellectual ability; 3) mean performance intelligence quotient (PIQ) was significantly lower than both mean verbal intelligence quotient (VIQ) and FSIQ (p < 0.0025 and p < 0.01, respectively), and most patients had a VIQ-PIQ discrepancy; 4) the frequency of mental retardation in our study group was significantly higher than that observed in the general population (15.1% vs 2.3%, p < 0.025); 5) a significant association was found between karyotype and VIQ, and the best score was achieved in the subgroup of patients with structural abnormalities of the X-chromosome. In the light of these findings we conclude that the clinical picture in TS may encompass a slightly reduced FSIQ, VIQ and especially an inadequate PIQ, but this neurocognitive profile is not significantly affected by statural impairment. Since these neurocognitive defects can be responsible for misdiagnosed school difficulties, we suggest that girls with TS should receive specialized educational support and multidisciplinary care.

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 order to confirm that population differences may exist in the genetic basis of this disease, we have analyzed the genetic presentation of NC-CAH in a Sicilian cohort of symptomatic patients and compared our findings with the ones reported in other studies of different ethnic groups. In 38 NC-CAH patients coming from two regions of Sicily and born of Sicilian parents, we found that 84.2% of the chromosomes examined bore only mild mutations and only the remaining 15.8% of the chromosomes bore at least 1 severe mutation. The overall predominant mutation was V281L, which was detected in 73.7% of alleles and in 89.5% of patients. About 58% of the patients were homozygotes for this mutation. V281L allele and homozygote frequencies were higher in the present series than in other European and Italian reports. In our NC-CAH population, which is one of the largest ever reported, the patients with two mild mutations exhibited a less severe impairment of both clinical and endocrine phenotype. On the basis of these results we can conclude that: a) in Sicilian ethnic groups NC-CAH is frequently associated with a very mild genotype; b) the most frequent genotype in our series is V281L homozygosis; c) clinical and biochemical expression of NC-CAH is more marked in the patients bearing a severe mutation; d) no correlations between genotype and phenotype were found in our patients affected by NC-CAH.

Nutritional, glycometabolic and genetic factors affecting menarcheal age in cystic fibrosis.

Aims of this study were to investigate menarcheal age (MA) and menarcheal determinants in 25 girls with cystic fibrosis (CF) and to compare their MA with their respective mothers'. Patients' MA (13.3 +/- 1.1 yr) was on average significantly higher (p<0.0005) than that of the respective mothers (12.2 +/- 1.0 yr) and positively related to it (r=0.055, p<0.005). Six girls experienced menarche after 14.2 yr, ie after the uppest limit of their mothers' MA range. The only parameter which significantly differentiated these 6 patients from the remaining 19 cases was body mass percentile (BMP). Moreover, in the entire patient series a negative correlation was found between MA and BMP. None of the other clinical parameters correlated significantly with MA. No differences in terms of MA were detected in the subgroups of patients with a different glucose tolerance (GT) status and the 12 girls with a pathological GT were not older at menarche than those with normal GT. No correlations were found between either glucose or insulin areas during oral GT test and MA. In the subgroups of patients with a different genotype menarche occurred at a similar age, irrespectively of their genotype. On the basis of our findings we conclude that: a) a menarcheal delay of approximately 1 yr exists between CF girls and their mothers; b) menarcheal delay in CF is not related to either genotype or disease severity or glycometabolic status; c) the only two factors which are able to affect MA in CF are maternal MA and nutritional status.

Pubertal development in cystic fibrosis: an overview.

Cystic fibrosis (CF) is an autosomal recessive disease characterized by respiratory and intestinal insufficiencies. It has been reported in the literature that patients with CF show delayed growth and puberty and girls with CF achieve menarche at older age than normal females. Infertility, in both sexes, and menstrual dysfunction, in girls, are common in patients with CF. Previous data suggest that the degree of failure of growth and development is correlated with malnutrition and severity of progressing pulmonary disease. Despite improved nutrition and intensive treatment, patients with CF have delayed puberty and growth pubertal spurt. This maturational lag is accompanied by a significant delay in attaining pubertal levels of insulin-like growth factor-I (IGF-I), luteinizing hormone (LH), follicle-stimulating hormone (FSH) and sex steroid hormones.