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Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.

In 2014, in some parts of the water distribution system of the municipality of Pietrasanta (Tuscany, Italy), thallium (Tl) levels above the recommended limits were measured and some restrictions to water usage for drinking and food preparation were imposed. The study aimed to assess Tl exposure and possible health effects by means of a human biomonitoring survey. In the 2014-2016 time frame, 2154 urine and 254 hair samples were taken from different population groups and from a control group. The levels of Tl found in urine and hair were statistically higher in exposed groups than in controls and compared to the reference values for the general population. Concentrations in urine were significantly associated with the geographical origin of the sample, the consumption of drinking water and food grown in local gardens. A significant association was found between urine and hair. No positive associations were found between the Tl levels in hair or urine and several self-reported symptoms and health effects, except for sleep disturbance. The study indicates that the concentration of Tl in drinking water can be traced by urine analysis. Urine and hair have proven to be biological matrices that can be effectively used for the evaluation of Tl exposure. To date, the study represents the most extensive human biomonitoring campaign for the evaluation of the Tl exposure available at international level.

IntroductionRickets, growth failure, and recurrent periapical abscesses with fistulae are main signs in patients with X-linked hypophosphatemic rickets (XLH). Prevalence of abscesses, pulp chamber features, biochemical findings, disease severity, and PHEX gene mutation were examined.Materials and methodsPulp chambers size, shape, and morphology were assessed by orthopantomography in XLH patients (n = 24, age 5.8 ± 1.6 years) and in sex and age-matched healthy controls (n = 23, age 6.2 ± 1.4 years). XLH patients received conventional treatment (3.5 ± 1.9 years). Pulp chamber features were assessed in teeth of primary dentition and in the permanent left mandibular first molar and compared with those of controls. Rickets severity score was assessed at wrist, knee, and ankle.ResultsThe mean pulp chamber area/tooth area ratio, mean pulp chamber height/pulp chamber width ratio, and prominence of pulp horns into the tooth crown in primary and secondary molars were significantly higher in patients than in controls and in patients suffered abscesses than in patients without abscesses. Sixteen patients (67%) had a history of abscesses; incisors were affected more than canines and molars. Severity of rickets and mean serum parathyroid hormone (PTH) levels were significantly higher, and mean serum 1,25-dihydroxyvitamin D [1,25(OH)2D] levels significantly lower in patients suffered abscesses than in patients without abscesses. PHEX gene mutations were not correlated with dental phenotype and disease severity.ConclusionEnlarged pulp chambers with altered shape and morphology affected the majority of XLH patients predisposing to recurrent periapical abscesses with fistulae. Dental phenotype was associated with severity of rickets, high serum PTH, and low serum 1,25(OH)2D levels.

Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders due to defects in adrenal steroid biosynthesis. In about 90% of patients, CAH is caused by pathogenetic variants in CYP21A2 gene, impairing the function of 21-hydroxylase (21-OH) enzyme. CAH can present as classical form (simple virilizing or salt wasting) or as non-classical form (NC-CAH). NC-CAH is due to pathogenetic variants in the CYP21A2 gene that result in 20–70% residual activity of 21-hydroxylase. Early diagnosis may be missed, mainly in childhood, jeopardizing long-term outcome. This paper will review some information on clinical findings, symptoms, diagnostic approaches, and treatments of NC-CAH in childhood, allowing better management and long-term outcome.

In boys, central precocious puberty （CPP） is the appearance of secondary sex characteristics driven by pituitary gonadotropin secretion before the age of 9 years. In the last years, relevant improvements in the treatment of CPP have been achieved. Because CPP is rare in boys, the majority of papers on this issue focus on girls and do not address specific features of male patients regarding end results and safety. In the present paper, recent advances of CPP management with GnRH analogs in men are summarized. End results in untreated and treated patients are also reviewed by an analysis of the recently published literature on treatment of CPP in men. The available data indicate that therapy with GnRH analogs can improve final height into the range of target height without significant adverse short-term and long-term effects, but longer follow-up of larger series of patients is still required to draw definitive conclusions.

Although spontaneous remission occurs in patients with idiopathic juvenile osteoporosis (IJO), permanent bone deformities may occur. The effects of long-term pamidronate treatment on clinical findings, bone mineral status, and fracture rate were evaluated. Nine patients (age 9.8 ± 1.1 years, 7 males) with IJO were randomized to intravenous pamidronate (0.8 ± 0.1 mg/kg per day for 3 days; cycles per year 2.0 ± 0.1; duration 7.3 ± 1.1 years; n  = 5) or no treatment ( n  = 4). Fracture rate, phalangeal quantitative ultrasound, and lumbar bone mineral density (BMD) by dual energy X-ray absorptiometry at entry and during follow-up (range 6.3–9.4 years) were assessed. Bone pain improved in treated patients. Difficulty walking continued for 3–5 years in untreated patients, and vertebral collapses occurred in three of them. During follow-up, phalangeal amplitude-dependent speed of sound (AD-SoS), bone transmission time (BTT), and lumbar BMDarea and BMDvolume progressively increased in treated patients ( P  < 0.05– P  < 0.0001). In untreated patients AD-SoS and BTT decreased during the first 2–4 years of follow-up ( P  < 0.05– P  < 0.01); lumbar BMDarea increased after 6 years ( P  < 0.001) whereas BTT and lumbar BMDvolume increased after 7 years of follow-up ( P  < 0.05 and P  < 0.001, respectively). At the end of follow-up, AD-SoS, BTT, lumbar BMDarea, and BMDvolume Z -scores were lower in untreated patients than in treated patients (−2.2 ± 0.3 and −0.5 ± 0.2; −1.9 ± 0.2 and −0.6 ± 0.2; −2.3 ± 0.3 and −0.7 ± 0.3; −2.4 ± 0.2 and −0.7 ± 0.3, P  < 0.0001, respectively). Fracture rate was higher in untreated patients than in treated patients during the first 3 years of follow-up ( P  < 0.02). Our study showed that spontaneous recovery of bone mineral status is unsatisfactory in patients with IJO. Pamidronate treatment stimulated the onset of recovery phase reducing fracture rate and permanent disabilities without evidence of side-effects.

Androgen treatment represents a main aspect of clinical management of boys with hypogonadism from adolescence onwards. Androgen replacement therapy is required to induce secondary sexual characteristics and adult male body composition, to optimize the accrual of bone mineral content and muscle mass, and to promote physical and social well-being. Testosterone is the only sex steroid hormone suitable for treatment in hypogonadal boys as it fulfils all the physiological requirements. However, the optimal regimens for androgen replacement therapy during adolescence remain to be defined. The new testosterone formulations (patch, gel, transbuccal and long-acting) have been designed for use in adults and the available dosages are probably too high to induce and manage puberty in adolescents properly. The aim of this paper is to provide practical indications for androgen treatment in male adolescents with hypogonadism.

In 2014–2015, concentrations of thallium above the recommended reference value (EPA: 2 µg/L) were measured in some parts of the drinking water distribution system in the municipality of Pietrasanta (Tuscany, Italy). An extensive campaign of water samples and human biomonitoring surveys were implemented to quantify the exposure of population. A residential cohort epidemiological study was carried out on the population of the municipality of Pietrasanta, aimed at comparing the health status of residents in the areas affected by thallium contamination with residents living in the rest of the municipality. Cohort included people residing in the municipality of Pietrasanta from 1 January 2000 to 31 December 2015. Residence addresses were georeferenced and each subject living in one of the three contaminated areas were defined as exposed. Mortality, hospital discharge data and adverse pregnancy outcomes were taken from administrative health databases. Cox proportional hazard models and logistic models were used to test the association between thallium exposure and health outcome. This study did not show any excess of risk in terms of mortality and hospitalization in the population residing in the areas served by thallium-contaminated aqueduct branches, compared to the rest of the not contaminated area. Increased risks for low birth weight (OR = 1.43 95% CI 0.91–2.25) and pre-term birth (OR = 1.40 95% CI 0.82–2.37) were observed. In view of the paucity of epidemiological studies on thallium, this study is an important contribution to the state of knowledge of the health effects of chronic exposures to low concentrations of thallium.

Bisphosphonates are widely used for the prevention and treatment of osteoporosis in adulthood. In the last years, bisphosphonates have been increasingly used in pediatric patients for the treatment of a growing number of disorders associated with osteoporosis, resistant hypercalcemia or heterotopic calcifications. The use of bisphosphonates in pediatric patients has been proven safe; however, the risk of potential severe consequences into adulthood should be kept in mind. Well-defined criteria for bisphosphonates treatment in pediatric patients are not specified, therefore an accurate selection of patients who could benefit from bisphosphonates is mandatory. A strict follow-up of pediatric patients receiving long-term bisphosphonate therapy is strongly recommended. The purpose of this mini review is to provide a summary of current knowledge on some main general aspects of the structure, mechanisms of action, pharmacokinetics, and bioavailability of bisphosphonates, and to focus on the latest advances of bisphosphonate treatment in pediatric patients. Particular attention has been paid to the common and potential adverse effects of bisphosphonate treatment, and some suggestions concerning the clinical approach and general measures for bisphosphonate treatment in pediatric patients are reported.

Background. Few data are available on quarterly 11.25 mg GnRH analog treatment in central precocious puberty (CPP). Aim. To assess the efficacy of triptorelin 11.25 mg in children with CPP. Patients. 17 patients (16 females) with CPP (7.9±0.9 years) were treated with triptorelin 11.25 mg/90 days. Methods. Gonadotropins, basal-, and GnRH-stimulated peak, gonadal steroids, and pubertal signs were assessed at preinclusion and at inclusion visit, 3 months, 6 months, and 12 months of treatment. Results. At 3, 6, and 12 months, all patients had suppressed LH peak (<3 IU/L after GnRH stimulation), as well as prepubertal oestradiol levels. Mean LH peak values after GnRH test significantly decreased from 25.7±16.5 IU/L at baseline to 0.9±0.5 IU/L at M3 (P<0.0001); they did not significantly changed at M6 and M12. Conclusions. Triptorelin 11.25 mg/90 days efficiently suppressed the pituitary-gonadal axis in children with CPP from first administration.