"Mimics" of Injuries from Child Abuse: Case Series and Review of the Literature.

The phenomenon of child abuse/maltreatment is underestimated and often represents a difficult challenge for healthcare professionals and forensic pathologists who must proceed with the differential diagnosis with accidental or self-induced events, or with lesions due to pathologies that overlap with that of mistreatment, defined as "Mimics". This study presents a case series with the aim of discussing lesions that may mimic signs of physical abuse in children but are due to a different etiology to raise awareness and train healthcare professionals and forensic pathologists on possible confounding factors in order to avoid diagnostic errors. Six cases of "Mimics" out of 418 cases of suspected mistreatment (1.43% of cases) were identified, presenting skin lesions initially classified as injuries of abuse due to their location and type and, in particular, sexual abuse for three cases. Then, the lesions and the subjects, in particular the anamnestic history, were examined by a multidisciplinary team and the diagnosis of genital lichen sclerosus et atrophicus in three cases, and the results of popular healing techniques (i.e., "cupping") in the other three cases were ascertained. These situations require specific skills and a forensic background from healthcare professionals to conduct a correct differential diagnosis and the intervention of a multidisciplinary team to investigate every possible pathology or alternative therapeutic practice that could simulate child abuse. In particular, when "mimics" are due to alternative medicine, it should not strictly be considered child abuse, but professionals must be aware of the hypothesis of mistreatment in case of non-medical indication or potential personal injuries from other crimes, such as illegal practice of the medicine. This awareness is also crucial to direct the child toward appropriate medical care, and it is essential to recognize that these conditions can coexist within the same clinical presentation.

Victimization among children and adolescents accessing the Meyer pediatric hospital: A retrospective study.

PROBLEM: The consistent prevalence and occasionally severe consequences of bullying and victimization suggest the need to include a more accurate assessment of these episodes within the Emergency Departments (ED). However, the literature on mental health related symptoms of bullying/victimization treated in the ED is still scarce. The aim of this study is to assess the prevalence of peer victimization amongst children and adolescents referred to an Italian Pediatric Emergency Department. Differences between Hospital Departments, type of victimization and ages are tested. METHODS: A retrospective observational study was conducted with 705 subjects. The age range was from 6 to 18 years old (M = 13.09; SD = 3.048). FINDINGS: 15.3% of the sample reported to be victimized (8.2% occasionally; 7.1% systematically). For the Child and Adolescent Psychiatry Unit, we found a significant association between peer victimization and being adolescent (Fisher's p = 0.003). In addition, a significant association was found between verbal victimization and Child and Adolescent Psychiatry Unit (Fisher's p = 0.02) and physical victimization and Child Abuse Department (Fisher's p < 0.001). CONCLUSION: Findings suggest the importance of an accurate assessment of victimization experiences of children and adolescents with access to ED, to prevent future re-victimization and crystallization of symptoms across time.

Increased incidence of precocious and accelerated puberty in females during and after the Italian lockdown for the coronavirus 2019 (COVID-19) pandemic.

BACKGROUND: The timing of puberty in girls is occurring at an increasingly early age. While a positive family history is recognised as a predisposing factor for early or precocious puberty, the role of environmental factors is not fully understood. AIMS OF THE STUDY: To make a retrospective evaluation of the incidence of newly diagnosed central precocious puberty (CPP) and the rate of pubertal progression in previously diagnosed patients during and after the Italian lockdown for COVID-19, comparing data with corresponding data from the previous 5 years. To determine whether body mass index (BMI) and the use of electronic devices increased during lockdown in these patients. PATIENTS AND METHODS: The study included 49 females with CPP. We divided the patients into two groups: group 1, patients presenting a newly diagnosed CPP and group 2, patients with previously diagnosed slow progression CPP whose pubertal progression accelerated during or after lockdown. We collected auxological, clinical, endocrinological and radiological data which were compared with data from two corresponding control groups (patients followed by our Unit, March to July 2015-2019). Patients' families completed a questionnaire to assess differences in the use of electronic devices before and during lockdown. RESULTS: Thirty-seven patients presented newly diagnosed CPP (group 1) and 12, with previously diagnosed but untreated slow progression CPP presented an acceleration in the rate of pubertal progression (group 2). The number of new CPP diagnoses was significantly higher than the mean for the same period of the previous 5 years (p < 0.0005). There were no significant differences between patients in group 1 and control group 1 regarding time between appearance of B2 and CPP diagnosis, although group 1 patients had a significantly earlier chronological age at B2, a more advanced Tanner stage at diagnosis (p < 0.005), higher basal LH and E2 levels, higher LH peak after LHRH test (p < 0.05) and increased uterine length (p < 0.005) and ovarian volume (p < 0.0005). The number of patients with previously diagnosed CPP whose pubertal development accelerated was also statistically higher compared to controls (p < 0.0005). In this group, patients' basal LH (p < 0.05) and E2 levels (p < 0.0005) became more markedly elevated as did the LH peak after LHRH test (p < 0.05). These patients also showed a significantly accelerated progression rate as measured by the Tanner scale (p < 0.0005), uterine length (p < 0.005), and ovarian volume (p < 0.0005). In both group 1 and group 2, BMI increased significantly (p < 0.05) and patients' families reported an increased use of electronic devices (p < 0.0005). CONCLUSION: Our data show an increased incidence of newly diagnosed CPP and a faster rate of pubertal progression in patients with a previous diagnosis, during and after lockdown compared to previous years. We hypothesize that triggering environmental factors, such as the BMI and the use of electronic devices, were enhanced during lockdown, stressing their possible role in triggering/influencing puberty and its progression. However, more studies are needed to determine which factors were involved and how they interacted.

Auxological and endocrinological features in internationally adopted children.

In internationally adopted children disorders of linear growth, puberty development, thyroid function, and bone metabolism are frequently reported. It is important that these children receive careful auxological and endocrinological evaluations and follow-up.Pediatricians and other healthcare providers should be aware that auxological and endocrinological problems are common in newly arrived international adoptees.

Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis.

OBJECTIVE: To evaluate the hypothalamus-hypophysis-gonad axis in a cohort of children and adolescents with nonmosaic triple X syndrome. DESIGN: Cross-sectional study with retrospective analysis. SETTING: University pediatric hospital. PATIENT(S): Fifteen prepubertal subjects (median age 9.0 years, range 6.9-11.9 years) with nonmosaic triple X syndrome and age- and pubertal-matched control group (30 girls, median age 9.1 y, range 6.9-11.6 years). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): We evaluated FSH, LH, and E2 levels and performed an autoimmunity screening as well as a pelvic ultrasonography and an LH-releasing hormone stimulation test. RESULT(S): All triple X patients (with and without pubertal signs) showed a pubertal LH peak level that was significantly different from controls. Triple X patients showed increased basal and peak FSH and LH values compared with control subjects. However, the mean E2 level was significantly lower than control subjects. However, triple X patients showed reduced DHEAS levels and reduced inhibin levels compared with control subjects. Finally, triple X patients had a significantly reduced ovarian volume compared with control subjects, in both prepubertal and pubertal patients. CONCLUSION(S): Triple X patients showed premature activation of the GnRH pulse generator, even without puberty signs. Both basal and peak LH and FSH levels were higher than in control subjects, and E2 and inhibin levels and ovarian volume were reduced, which led to a reduced gonadal function. Other studies and a longitudinal evaluation is necessary to better understand the endocrinologic features of these subjects.

Amenorrhea after Endoscopic Third Ventriculostomy for a Failed Shunt in Spina Bifida: Case Report and Review of the Literature.

BACKGROUND: Secondary endoscopic third ventriculostomy (ETV) for the management of shunt failure may be efficacious, though it may be followed by more frequent complications (including endocrinological impairment, e.g., amenorrhea) compared to primary ETV. These complications are usually underreported in the literature. AIM: We report a case of secondary amenorrhea after ETV for the management of shunt failure in a young woman with hydrocephalus associated with myelomeningocele. METHODS: A 25-year-old woman affected by hydrocephalus and myelomeningocele was admitted for secondary ETV for the management of shunt failure. The endoscopic procedure was preferred over shunt revision based on good results of secondary ETV, especially in patients with hydrocephalus associated with Chiari II malformation and spina bifida. RESULTS: Despite the surgery being uneventful, the patient had early (postoperative seizure) and late (secondary amenorrhea) complications. In the early postoperative period, she received external ventricular drainage followed by VP shunt reimplantation 2 weeks later. There was no neurological morbidity, but 1 month after the ETV she reported secondary amenorrhea and weight gain. Laboratory investigations ruled out hyperprolactinemia, which had been treated with cabergoline administration with no efficacy since the patient was still without regular periods 1 year later. CONCLUSION: ETV may be followed by endocrinological complications like amenorrhea that are rarely reported.

Kawasaki disease in a girl with Turner syndrome: a remarkable association.

We describe a girl with Turner syndrome, a genetic disorder of the X chromosome in a phenotypic female at increased risk of autoimmune and immunological diseases, who developed Kawasaki disease at the age of four years. Given the possible relationship between these two disorders, we recommend suspecting Kawasaki disease in patients with Turner syndrome who present with persistent fever of unknown origin and who are not responsive to antibiotic therapy. Attention should be given to this phenomenon, as patients with Turner syndrome are themselves at higher risk of cardiovascular defects. Further studies are needed to better clarify this issue.

Oral clonidine provocative test in the diagnosis of growth hormone deficiency in childhood: should we make the timing uniform?

INTRODUCTION: Oral clonidine is one of the most frequent drugs used for the diagnosis of growth hormone deficiency (GHD), but the duration of the test, depending on which European centres use it, is not uniform and can vary from 120 to 150 min or even 180 min. SUBJECTS AND METHODS: To standardize this test, evaluating the possibility to shorten it to 90 min, we investigated the response of GH to the oral clonidine test in 291 children evaluated for short stature (height <-2 SD). Of these, 164 were diagnosed as idiopathic short stature (ISS) and 127 as GHD. In these patients, we calculated: (1) the frequency distribution of the GH peaks to clonidine in GHD and in ISS at various times; (2) the percentage of GH peaks to clonidine before and after 90 min in all and in ISS children; (3) the percentage of the first GH value >or=10 ng/ml before 90 min and after 90 min in ISS. RESULTS: GH peak distribution varied between 30 and 180 min, even though the vast majority of peaks occurred between 30 and 60 min. There was no significant difference (p > 0.05) in the peak distribution between ISS and GHD children. The percentages of GH peaks within 90 min were 92.1% in all children and 95.7% in ISS. If considering the first value of GH >or=10 ng/ml this last percentage reaches 96.3%. CONCLUSION: Our study suggests that the oral clonidine test can be administered for only 90 min without significantly changing its validity. This test should be standardized at 90 min in European protocols just as in those currently used in the USA in order to reduce the discomfort of patients and the cost of this diagnostic procedure.

Thyroid function and morphology in patients affected by Williams syndrome.

OBJECTIVE: To evaluate the prevalence of abnormalities of thyroid function and morphology in a cohort of patients with Williams syndrome (WS). METHODS: Serum concentrations of free-T3, free-T4, TSH, thyroperoxidase antibodies (TPOA) and thyroglobulin antibodies (TgA), as well as ultrasonographic data, of 20 patients with WS (12 females and eight males), aged 1.7-34.9 years, were evaluated. RESULTS: Three cases (15%) of subclinical hypothyroidism were identified. Overt hypothyroidism was diagnosed in two cases (10%). Thyroid antibodies were negative in all patients. Fourteen patients (70%) showed thyroid hypoplasia involving the entire gland. In these patients, the left thyroid lobe appeared usually, but not significantly, reduced compared with the right thyroid lobe. One patient (5%) showed thyroid hemiagenesis. Only five patients (25%) showed a thyroid with normal volume, and of these five, one patient showed marked thyroid hypoplasia of the left lobe. In all WS patients with diagnosis of subclinical or overt hypothyroidism, thyroid hypoplasia was detected. No cases of subclinical or overt hypothyroidism were found in WS with normal thyroid volume. CONCLUSIONS: This study confirms the presence of alterations of thyroid function in WS and also suggests the frequent occurrence of abnormalities of thyroid morphology in these patients. Patients with WS should be monitored for thyroid function and a thyroid ultrasound screening should be considered, especially in those patients with changes in thyroid function.