Biomedical subjects

Alessandro Cicognani

Publications and source records attributed to Alessandro Cicognani.

23 records · Page 2Linked to original sources

PubMed2003

CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency.

In a retrospective study we evaluated long-term growth, pubertal developmental patterns to final height (FH), and medication in 55 patients (35 females) affected by 21-hydroxylase deficiency. The patients were classified into 3 groups according to predicted mutation severity: group A (11 women and 9 men), homozygous or compound heterozygous for null or In2 splice mutations [residual enzymatic activity (RA), <1%]; group B (11 women and 4 men), homozygous for I172N or R341P or R426H mutations (RA, approximately 2-3%) or compound heterozygous with any of the group A or B mutations; and group C (13 women and 7 men), homozygous for P30L or V281L or P453S mutations (RA, >30%) or compound heterozygous with any of the group A, B, or C mutations. Three patients showed unclassifiable genotypes. FH was similar in the female groups, whereas male patients in group B were shorter than males in groups A and C. Fifty-five percent of patients in group A, 33% in group B, and 40% in group C reached an FH within 0.5 SD of target height. Four of the 7 patients diagnosed via neonatal screening achieved an FH equal to or above the target height. In the entire group, early diagnosis (<1 yr) improved height outcome. Early diagnosed CAH patients who received lower cortisol equivalent doses during the first year of life reached a better FH. Our results underline the importance of mineralocorticoid therapy, as CAH subjects in groups A and B who did not receive this treatment showed reduced FH. Early diagnosis, the use of more physiological cortisol equivalent dosages during the first year of life, and the extension of mineralocorticoid therapy to all classical patients are shown to improve the auxological outcome. Genotypic analysis helped to interpret the height results of our cases and prospectively may represent a useful tool for improving the therapeutic choice and the height outcome.

Adrenal Hyperplasia, Congenital↗

PubMed2003

Treatment for congenital hypothyroidism: thyroxine alone or thyroxine plus triiodothyronine?

OBJECTIVE: To compare the effects of therapy with thyroxine (T4) plus triiodothyronine (T3) versus T4 alone from the first days of life in screened congenital hypothyroid (CH) infants. METHODS: We examined 14 CH infants diagnosed by neonatal screening and a group of control infants. CH patients were divided randomly into 2 groups, 1 treated with T4 alone (group 1) and the other treated with T4 plus T3 (liothyronine; group 2). In all patients electrocardiography and thyroid hormone evaluations were performed before and 15 and 30 days and 3, 6, and 12 months after the beginning of therapy. Psychological tests were also performed at 6 and 12 months of age in CH patients and in other matched controls. RESULTS: After 15 days of treatment, serum thyrotropin (TSH) levels become normal in 5 of 7 cases of group 1 (median TSH level 10.7 micro U/ml) and in 1 of 7 cases of group 2 (median TSH level 72.5 micro U/ml). At the same period, serum-free thyroid hormone levels were within the normal range in both groups, but free T4 values were significantly higher in group 1 than in group 2 and in controls. At the subsequent examinations, free T4 values were within the upper normal limit in group 1, whereas they remained within the normal range in group 2. No clinical or electrocardiographic signs of heart disease were found in any of the patients. The psychometric quotient in CH infants was significantly lower than in controls, but similar in patients of group 1 and group 2. CONCLUSIONS: The combined treatment with T4 plus T3 seems not to show significant advantages, at least in our experimental conditions, compared with the traditional treatment with T4 alone in early treated CH infants. A further longer and more extensive follow-up is mandatory.

Cohort Studies↗

PubMed2002

Low birth weight for gestational age and subsequent male gonadal function.

OBJECTIVE: To verify whether a reduced birth weight for gestational age was associated with a testicular dysfunction in postpubertal boys. STUDY DESIGN: Boys born small for gestational age (SGA) (n = 25) were compared to 24 born with an appropriate weight. All subjects were postpubertal (mean age 17.5 +/- 1.3 and 17.6 +/- 2.0 years, respectively). The following clinical and endocrinologic variables were evaluated: final height, target height, body mass index, testicular volume, follicle-stimulating hormone, luteinizing hormone, testosterone, and inhibin B. RESULTS: The SGA group had reduced testicular size (16.3 +/- 2.7 mL vs 22.8 +/- 3.2 mL; P <.0001) with a lower testosterone level (3.76 +/- 1.35 ng/mL vs 4.77 +/- 1.55 ng/mL; P <.05) and a higher LH value (4.41 +/- 1.61 IU/L vs 3.44 +/- 1.29 IU/L; P <.05). Among the SGA group, 54% had a mean testicular volume >2 SD below the control mean (ie, <16 mL) and in these subjects, the inhibin B level was low (143 +/- 46 pg/mL vs 229 +/- 76 pg/mL; P <.0001). SGA patients with smaller testes had lower final height relative to target height(P <.05 vs patients with larger testes) and for the SGA group, inhibin B correlated with testicular size (P <.0001). Positive correlations also were found between the reduction of final height relative to target height and testicular volume (P <.005) and inhibin B values (P <.05). CONCLUSIONS: SGA subjects have pituitary-gonadal axis function that tends toward hypogonadism. There is a disruption of the exocrine function in subjects with smaller testicular size who failed to show a complete height catch-up growth. This study supports a link between low birth weight and lower fertility in adult males.

Adolescent↗

PubMed2002

Inhibin B levels in adolescents and young adults with type 1 diabetes.

OBJECTIVE/METHODS: To assess exocrine and endocrine testicular function in subjects with diabetes, we evaluated serum inhibin B, gonadotrophins and testosterone levels in 33 male adolescent and young adult patients affected by type-1 diabetes (age 21.0 +/- 5 years; range 14.2-33.3), with a mean disease duration of 12.7 +/- 5.8 years (range 1.5-25.3) and various metabolic control (HbA1c 7.8 +/- 1.5%; range 5.5-13.2) and compared them with those of an age-matched group of 36 healthy control subjects (age 19.5 +/- 4.1 years; range 13.6-28.1). Both patients and controls had a testicular volume >or=15 ml. Inhibin B was measured by ELISA method. RESULTS/CONCLUSION: Diabetics and controls had comparable inhibin B (203 +/- 74 vs. 221 +/- 69 pg/ml, respectively) and follicle-stimulating hormone (FSH) levels, while luteinizing hormone (LH) and testosterone levels were significantly higher in the diabetic group. Inhibin B was negatively correlated both in patients and controls with FSH, while a negative correlation with LH was found only in the diabetic group. We conclude that our young diabetic males, after a mean disease duration of 12 years and various metabolic control, had inhibin B and FSH levels comparable to those of normal subjects. Therefore, they seem to have a regular testicular function and in particular a normal seminiferous tubule/Sertoli cell activity despite sustained hyperglycemia.

Adolescent↗

PubMed2002

The glucose area under the profiles obtained with continuous glucose monitoring system relationships with HbA(lc) in pediatric type 1 diabetic patients.

OBJECTIVE: The purpose of this study was to determine whether the continuous glucose monitoring system (CGMS) (MiniMed, Sylmar, CA) 1) is sufficiently representative of the overall metabolic control as assessed by HbA(1c), 2) could be used to identify a particular blood glucose threshold value affecting hemoglobin glycation; and 3) is able to show any relationship between particular glycemic profiles and HbA(1c) levels. RESEARCH DESIGN AND METHODS: Of 44 pediatric patients with type 1 diabetes who wore CGMS devices, 28 subjects were selected for the study. Criteria for inclusion were high levels of HbA(1c) (> or =8%) for more than 1 year or a history of frequent hypoglycemic episodes and a complete CGMS registration for 72 h. Age of the subjects ranged from 5.7 to 24.8 years, the mean duration of disease was 7.63 +/- 4.75 years, and the mean HbA(1c) value was 8.7 +/- 1.3%. CGMS data were downloaded and glucose profiles were analyzed. The area under each glucose profile was calculated by means of a professional digital planimeter. RESULTS: The glucose profiles showed a high frequency of prolonged hyperglycemic periods (80% of subjects) and a low frequency of postmeal glycemic peaks (29% of subjects). Postlunch values were significantly correlated with HbA(1c) levels, but the correlation disappeared when controlling for glucose area values. Glucose area values significantly correlated with HbA(1c) levels both when considered as a whole (40-400 mg/dl; r = 0.53, P = 0.002) and when considered fractioned (40-150, 40-200, 40-250, 40-300 mg/dl), apart from the 40-90 mg/dl partial area. HbA(1c) levels were significantly decreased 3 and 6 months after use of CGMS (P = 0.05 and 0.03, respectively, paired Student's t test). CONCLUSIONS: HbA(1c) levels may be decreased by using the information obtained with the CGMS. Three-day glucose profiles are representative of the overall glucose control, because glucose area values correlate with HbA(1c) levels. The only glucose threshold below which there seems to be no correlation with HbA(1c) is 90 mg/dl. Only glucose area, and not postprandial glucose values, are directly and independently correlated with HbA(1c). Therefore, to improve metabolic control, it is necessary to lower the whole mean 24-h glycemia and not just the postprandial glucose values.

Adolescent↗