Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?

Background Central precocious puberty (CPP) and phenylketonuria (PKU) are two rare conditions, the latter being the rarer. To date, only one case featuring both these conditions has been reported, and hyperphenylalaninemia was assumed triggering CPP. Case presentation We present a 3.2 years old girl referred with a 12 months history of breast and pubic hair development, and vaginal discharge. Hyperphenylalaninemia had been identified by newborn screening and PKU subsequently confirmed by plasma amino acid and genetic analysis. Early dietary control of plasma phenylalanine had been excellent afterwards, resulting in phenylalanine concentrations consistently within the recommended range. Clinical scenario, hormonal assessment and imaging were in keeping with true idiopathic central precocious puberty. Treatment with long lasting gonadotropin-releasing hormone analogue led to regression of secondary sexual characteristics. Conclusion We describe for the first time CPP in a girl affected with PKU but with persistently well controlled blood phenylalanine concentrations. This finding is in contrast to a previous report which suggested persistently high phenylalaninemia levels as potential trigger for CPP in PKU patients. Our report, together with the lack of evidence in published cohort studies of children with PKU, strongly suggests this rare association is coincidental and independent of the presence of severe hyperphenylalaninemia.</p

Childhood obesity and environmental pollutants: a dual relationship

The rise in obesity rates is an alarming global health concern. Despite obesity is mainly due to an unbalanced energy intake and expenditure, several recent studies suggest that it could be a consequence of exposure during critical developmental windows to environmental chemicals disrupting endocrine functions. This suggests that a shift is occurring in the human body pathways used to integrate changing nutritional and environmental variables and to maintain metabolic balance and body weight. This review highlights the role of pesticides, in particular endocrine disrupter ones, on obesity pathogenesis in childhood and summarizes the current under-standing of the major environmental influences on pediatric obesity. (www.actabiomedica.it)

Challenges in the development and growth of small for gestational age newborns

Introduction: Being born with low birth weight (less than 2.500 gr) is considered a public health problem, with an overall world rate of about 14%. Low birth weight may result from a premature birth (< 37 weeks of gestation), from several causes of intra-uterine growth restriction or from a combination of both. Areas covered: We described how, if weight and/or length at birth are not adequate for gestational age, the newborn is considered ‘small for gestational age’ and may present several growth, hormonal and developmental peculiarities, possibly due to the growth restriction developed during pregnancy. Expert commentary: We provide a description of the possible mid-term consequences of being born small for gestational age and how to follow and provide care for these babies from a multidisciplinary point of view

Cell therapies for pancreatic beta-cell replenishment.

The current treatment approach for type 1 diabetes is based on daily insulin injections, combined with blood glucose monitoring. However, administration of exogenous insulin fails to mimic the physiological activity of the islet, therefore diabetes often progresses with the development of serious complications such as kidney failure, retinopathy and vascular disease. Whole pancreas transplantation is associated with risks of major invasive surgery along with side effects of immunosuppressive therapy to avoid organ rejection. Replacement of pancreatic beta-cells would represent an ideal treatment that could overcome the above mentioned therapeutic hurdles. In this context, transplantation of islets of Langerhans is considered a less invasive procedure although long-term outcomes showed that only 10 % of the patients remained insulin independent five years after the transplant. Moreover, due to shortage of organs and the inability of islet to be expanded ex vivo, this therapy can be offered to a very limited number of patients. Over the past decade, cellular therapies have emerged as the new frontier of treatment of several diseases. Furthermore the advent of stem cells as renewable source of cell-substitutes to replenish the beta cell population, has blurred the hype on islet transplantation. Breakthrough cellular approaches aim to generate stem-cell-derived insulin producing cells, which could make diabetes cellular therapy available to millions. However, to date, stem cell therapy for diabetes is still in its early experimental stages. This review describes the most reliable sources of stem cells that have been developed to produce insulin and their most relevant experimental applications for the cure of diabetes

The Kids Are Alright (?). Infants’ Development and COVID-19 Pandemic: A Cross-Sectional Study

Objectives: The study aimed to assess and compare the global development in six-month-old infants before and during the pandemic restrictive social distancing measures. Methods: This cross-sectional nested study involved infants assessed through the Griffiths Scales of Child Development (GSCD) between September 2019 and April 2021. Infants were classified in a pre-COVID or a COVID group, considering the evaluation date and the restrictive measures in place. GSCD subscales and General Development Scores (GDS) were calculated and compared. Results: One hundred and four healthy term-born infants were evaluated. GDS in the COVID group (n:70; median: 94; IQR: 90–100) appeared significantly lower than in the pre-COVID group (n:34; median: 98; IQR: 97–103; p &lt; 0.001). Language and personal-social-emotional subareas scores appeared the most affected. A decreasing trend of GDS along with the severity of restriction was observed. Conclusion: A reduction in infant development scores was observed during pandemic social distancing. Further studies are needed to systematize these findings and to address effective public health policies for infants and families during long-term forced isolation periods

The impact of the Italian guidelines on antibiotic prescription practices for acute otitis media in a paediatric emergency setting

Acute otitis media (AOM) is one of the most common childhood infectious diseases. The recent Italian Pediatric Guidelines for the treatment of AOM constitutes a step forward in the management of children with uncomplicated AOM. The aim of this study was to evaluate antibiotic prescription patterns for AOM in a Pediatric Emergency Department (PED) after those guidelines were introduced and to assess the relationship between implementation of the "watchful waiting" strategy and the incidence of acute mastoiditis in the PED

The measurement of urinary gonadotropins for assessment and management of pubertal disorder

OBJECTIVE: Measurement of urinary LH (uLH) and FSH (uFSH) may facilitate non-invasive pubertal assessment but there is a need for further validation by studying children and adolescents with disorders of puberty. DESIGN: 65 cases (Male: 25) with a median age of 12 years (2.9-18.1) supplied at least one non-timed urine sample for uLH and uFSH measurement by immunoassay and corrected for creatinine excretion. 25 cases were receiving GnRH-agonist (GnRH-a) at the time of sample collection. In 41 cases, urine samples were collected prior to a LH RH test and in 12 cases matched serum samples for basal LH (sLH) and FSH (sFSH) were also available. RESULTS: There was a significant correlation between sLH and uLH: uCr (r=0.82; p-value &lt;0.001) and sFSH and uFSH: uCr (r=0.93; p-value &lt;0.001). Based on receiver operator characteristics analysis, a uLH : uCr value of 0.05 IU/mmol as a cut-off would detect a LH peak &gt;5U I/L with a sensitivity of 86% and a specificity of 72% with a positive predictive value of 93%. In pubertal boys (6) and girls (22) with a sLH peak &gt;5UI/L, median uLH: uCr was 0.27 IU/mmol (0.27-0.28) and 0.17 IU/mmol (0.09-0.43), respectively. The median uFSH: uCr was 0.51 IU/mmol (0.41-0.60) for boys and 1.1 IU/mmol (0.21-2.44) for girls. In the 25 cases on GnRH-a, the median uLH : uCr for boys and girls was 0.02 IU/mmol (0.01-0.02) and 0.02 IU/mmol (0.004-0.07), respectively, and the median uFSH: uCr was 0.07 IU/mmol (0.05-0.09) and 0.27 IU/mmol (0.09-0.54), respectively. CONCLUSION: Urinary gonadotrophins reflect serum gonadotrophin concentration and may represent a reliable non-invasive method of assessing pubertal progress