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Acquired autoimmune hypothyroidism is common in late childhood and adolescence but is very rare in the first 3 years of life. We report on three cases of autoimmune thyroiditis (AT) in young children who presented with constipation, decreased appetite, and increased hours of sleep. Our cases highlight that AT may remain undiagnosed for a long time in young children owing to the rarity of the disease.

Consumptive hypothyroidism is a rare condition related to massive infantile hemangiomas producing an excess of the thyroid-hormone-inactivating enzyme type 3 iodothyronine deiodinase. We report the first case of consumptive hypothyroidism secondary to a large parotid hemangioma, highlighting the difficulties in selecting an adequate therapeutic strategy. The affected child was initially referred to our center for congenital hypothyroidism with a hypoplastic thyroid gland. L-Thyroxine (L-T4) replacement therapy was started at seven days of life. In the following weeks, the hemangioma rapidly increased in volume and the child developed severe hypothyroidism refractory to high doses of L-T4 therapy. The concentration of reverse triiodothyronine was elevated, suggesting that the underlying cause was an excessive conversion of thyroid hormones by high type 3 iodothyronine deiodinase levels in the tumor. Corticosteroid treatment showed only partial benefit. Introduction of propranolol instead led to normalization of thyroid hormones along with a dramatic involution of the hemangioma.

There are two types of vitamin D dependent rickets (VDDR) that cause rickets in children. Vitamin D dependent rickets type 1 (VDDR-I) is caused by an inborn error of vitamin D metabolism, which interferes with renal conversion of calcidiol (25OHD) to calcitriol (1,25(OH)2D) by the enzyme 1alpha-hydroxylase. Vitamin D dependent rickets type 2 (VDDR-II) is caused by a defect in the vitamin D receptor (VDR). We report cases of two African children affected by VDDR-I and VDDR-II, respectively. Establishing an early diagnosis of these genetic forms of rickets is challenging, especially in developing countries where nutritional rickets (NR) is the most common variety of the disease. A prompt diagnosis is necessary to initiate adequate treatment, resolve biochemical features and prevent complications, such as severe deformities that may require surgical intervention.

Clinical criteria for the diagnosis of Prader-Willi Syndrome (PWS) were established by consensus in 1993 (Holm et al.). Specific molecular testing is now available and the purpose of diagnostic criteria has shifted to identify individuals to test, thus avoiding the expense of unnecessary analysis. The aim of this study was to find clinical indicators to select patients with suspected PWS for laboratory testing. We analyzed the prevalence of clinical signs and symptoms in 147 genetically diagnosed Italian patients with PWS (67 males and 80 females), aged from 9 months to 34.6 years (13.6 +/- 8.3 years), using the consensus diagnostic criteria, and according to age, sex and type of genetic abnormality. The prevalence of several clinical features changed significantly with age, but very few with sex. According to genetic subtypes (deletion vs UPD), only hypopigmentation and acromicria were more frequent in patients with deletion. Some criteria considered as minor or supportive by Holm et al. have higher prevalence than some major criteria. In conclusion, in order to identify patients with suspected PWS to submit to laboratory testing, we recommend a classification of clinical criteria according to age, giving more attention to those so-called minor or supportive criteria.

Thyroid hormones are essential for normal growth, sexual development and reproductive function. During puberty, changes in thyroid functions and an increase in thyroid volume occur as an adaptation to body and sexual development. Hypothyroidism diagnosed late in prepubertal years, usually due to Hashimoto's thyroiditis, can cause a delay of puberty or incomplete isosexual precocity (development of breast and internal genitalia in girls and increased testis volume in boys without adrenarche). In contrast, normal pubertal development and adequate menarche have been documented in congenital hypothyroidism detected by neonatal screening and treated early. The effect of hyperthyroidism on pubertal development is not well known, but a short period of hyperthyroidism seems not to have major negative effects. In adolescence or young adulthood, menstrual dysfunction, infertility, and stillbirth or premature birth are associated with thyroid dysfunction.

Objective: To investigate the influence of target height (TH), gender, phenotype, glucocorticoid formulation and age at onset of treatment on final height (FH) in patients with 21-hydroxylase deficiency (21OHD)., Patients: Clinical data of 93 patients--46 simple virilizing (SV), 35 salt-wasting (SW) and 12 late onset (LO)--were collected in six pediatric endocrinology units in Italy., Results: FH and TH were always below the mean height of the general population (mean FH, SDS: SW patients -1.3 +/- 1.2, SV patients -1.8 +/- 0.9, LO patients -1.7 +/- 1.1; mean TH, SDS: SW patients -0.6 +/- 0.8, SV patients -0.7 +/- 0.9, LO patients -1.4 +/- 1.3). FH was significantly below TH in patients with classic form (SW and SV, p <0.001), but not in LO patients. In classic form, TH seems to be related to FH, followed by age at onset of therapy and by steroid formulation, these variables explaining 30% of FH variance., Conclusions: In the classic form, substitutive therapy started before 21 months of age improved the long-term outcome. Lower TH in LO patients could be due to undiagnosed non-classic 21OHD in some of their parents. FH in LO patients seems not to benefit from corticosteroid therapy, even if late diagnosis may partly account for this result.

Introduction: Body composition changes with age and sex differences become significant only after puberty. Boys and girls before the age of 8 yr do not differ in fat, lean or bone mineral mass. Hormonal influences during pubertal development determine the physiological adult male and female body composition phenotype., Aim: The aim of our study was to evaluate body composition changes due to central precocious puberty (PP) and the specific effects of therapy on these modifications., Subjects and Methods: Sixteen patients (14 girls, 2 boys) were included in the study. They were diagnosed as affected by idiopathic PP according to standard hormonal and clinical criteria; anatomic alterations of hypothalamus-hypophysis region were excluded by MRI. Mean age at diagnosis was 5.9 +/- 1.9 yr. All patients received GnRH analog (Leuprolide or Triptorelin) treatment subcutaneously every 4 weeks for at least 1 yr. Mean period of treatment was 3.4 +/- 1.9 yr. Standard anthropometry and body composition analysis were performed at baseline and every 6-12 months. A group of healthy subjects with normal timing of puberty was matched (for age or for pubertal stage) served as the control group (CA or CP, respectively)., Results: Patients with PP showed at baseline a significant increase of BMI and relative body weight; lean and fat compartments were also increased but not significantly. During treatment, the PP group showed increased fat mass compared to CA (p<0.05), while no difference was found between PP and CP. Lean mass was similar to CA but lower than in CP (p<0.05). During treatment a significant increase in lean mass (both as total as well as limb mass) was observed. After stopping treatment there was no difference between PP and CP, except for lower lean mass (p<0.04)., Conclusion: When puberty occurs precociously, lean and fat mass are not significantly different from age-matched control subjects. Data collected during treatment confirm a shortening of prepubertal lean mass development and the block of further lean mass development due to puberty itself, while fat mass accumulation continues. The net result of these modifications determines a typical body composition pattern in PP patients, after the end of therapy: lean mass is reduced by a shortening of the prepubertal growing period and by the "menopausal effect" of treatment itself. Fat mass is increased as a consequence of therapy and could lead to future obesity.

Prader-Labhardt-Willi syndrome (PLWS) is a model to study GH secretion, body composition and consequences of GH therapy. Twenty-seven patients were studied by dual-energy X-ray absorptiometry (DXA) and were each compared to two age- and sex-matched controls (obese and normal weight). Fat mass (FM) was significantly greater in PLWS than in patients with simple obesity; lean body mass (LM) and bone mineral content (BMC) were significantly lower compared to both controls. The peculiar body composition of PLWS patients seems to be similar to that found in GH deficiency. In six PLWS children treated with GH, LM increased after 6 months (p<0.02) up to 12 months (p<0.03); FM decreased in 5/6 patients. Obese adult PLWS patients treated with GH for 6 months showed a reduction in adiposity; LM increased significantly only in the leg compartment. Abdominal CT scan did not show a significant reduction of intrabdominal fat area. In conclusion, GH therapy might improve final stature and exert a positive influence on body composition in patients with PLWS.

This study was undertaken to confirm the importance of iodine excess in neonatal transient hypothyroidism. In 30 transient hypothyroid newborns at screening we measured urinary iodine excretion and TSH. They were divided into two groups: group A consisted of 21 newborns who had been exposed to iodine; group B of 9 non-exposed newborns. The two groups were significantly different only for median urinary iodine excretion (p = 0.001). In 61.5% of newborns of group A, iodine exposure caused iodine excess (urinary iodine excretion higher than 185 micrograms/l); this correlated with a higher prevalence of prematurity and a lower mean gestational age. Clinical records should reveal iodine exposure, but only urinary iodine excretion shows iodine excess. We suggest that evaluation at birth of urinary iodine excretion in every newborn with high TSH could help in predicting a good prognosis, since hypothyroidism due to the Wolff-Chaikoff effect is always spontaneously reversible, even if treatment may be suggested.

The prevalence and correlates of the early signs of renal, retinal and neurological microvascular complications were evaluated in 317 young patients with type I diabetes mellitus. Microalbuminuria was detected in 11% of patients and appeared to be strongly and positively related to HbA1c (p < 0.01) and less significantly to duration of diabetes (p < 0.02). Retinopathy was detected in 22.7% of patients and it was associated with duration of diabetes (p < 0.001). Peripheral neuropathy was detected in 18.5% of patients and there was a strong association with HbA1c (p < 0.01) and a weaker one with duration of diabetes (p < 0.05). Microalbuminuria was not detected in prepubertal patients while a similar frequency of retinopathy and neuropathy was observed in prepubertal and postpubertal patients. These results suggest that: 1) In short-term type I diabetic patients neuropathy is the most frequent microvascular complication, but after 10 years of diabetes, retinopathy exceeds the other complications; 2) Short-term metabolic control may influence the frequency of neuropathy and microalbuminuria but not retinopathy; 3) Puberty is involved in the appearance of microalbuminuria.

Whereas there is general agreement about the biochemical diagnosis of hyperinsulinism, the value of imaging to differentiate diffuse from focal pancreatic lesions is still a matter of debate. We describe a case of multiple adenomas of the pancreas in an eleven year-old boy. The source of hyperinsulinism was detected by pancreatic ultrasound examination and confirmed by MRI as a single adenoma of the pancreas. These radiological exams did not identify three other pancreatic adenomata. Our report outlines the difficulties in anatomically localizing the source of excessive insulin secretion in cases of hyperinsulinemic hypoglycemia.

Low somatotrope responsiveness to secretagogues has been reported in patients affected by Prader-Labhard-Willi Syndrome (PLWS). In normal subjects, GH response to GHRH is known to be greatly potentiated to the same extent by pyridostigmine (PD) or arginine (ARG) which probably act via inhibition of hypothalamic somatostatin release. To clarify somatotrope responsiveness in 7 PLWS patients, we studied GH response to GHRH alone and to GHRH combined with PD or ARG. Eight normal short children were studied as controls (NC). GH response to GHRH in PLWS was lower than in NC (AUC: 615 +/- 205 micrograms/l.h, vs 1271 +/- 333 micrograms/l.h, p < 0.02). In NC, the GHRH-induced GH rise was potentiated to the same extent by PD or ARG. In contrast, in PLWS PD failed to increase the GH response to GHRH (AUC: 615 +/- 205 micrograms/l.h vs 621 +/- 176 micrograms/l.h, n.s.) which was enhanced by ARG (AUC: 615 +/- 205 micrograms/l.h vs 1633 +/- 425 micrograms/l.h, p < 0.02). However, the GH response to GHRH + ARG in PLWS was lower than in NC. In conclusion, our results demonstrate that in PLWS the low somatotrope responsiveness to GHRH is not enhanced by cholinergic potentiation while it is increased by arginine.