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Pheochromocytomas and paragangliomas (PPGLs) are highly heritable tumours, with up to 40% of cases carrying germline variants. Current guidelines recommend genetic testing for all patients with PPGLs. Next-generation sequencing (NGS) enables accurate, fast, and inexpensive genetic testing. This study aimed to compare the costs related to PPGL genetic testing between the sequential testing using the decisional algorithm proposed in the 2014 Endocrine Society guidelines and targeted NGS gene panels. Patients with proven PPGLs were enrolled. A gene list covering 17 susceptibility genes related to hereditary PPGLs was developed for targeted sequencing. Validation was carried out by Sanger sequencing. We simulated the diagnostic workflow to examine the anticipated costs based on each strategy for genetic testing. Twenty-nine patients were included, among whom a germline variant was identified in 34.5%. A total of 22.7% with apparently sporadic PPGL carried a variant. Five genes were involved (RET, n = 3; SDHB, n = 3; SDHD, n = 2; EGLN1, n = 1; and NF1, n = 1). According to the diagnostic workflow, the average cost of the targeted NGS (534.7 US dollars per patient) is lower than that of the sequential testing (734.5 US dollars per patient). The targeted NGS can also reduce the number of hospital visits from 4.1 to 1 per person. The cost can be further reduced to 496.24 US dollars per person (32% reduction) if we apply a new syndromic-driven diagnostic algorithm to establish priorities for specific genetic testing for syndromic and selected cases, and targeted NGS for non-syndromic patients. Targeted NGS can reduce both the cost of PPGL genetic testing and the number of hospital visits, compared with the conventional approach. Our proposed algorithm is the preferred approach due to its significant reduction of the cost of genetic testing. Pheochromocytomas and paragangliomas are highly heritable neoplasms. The targeted next-generation sequencing (NGS) gene panels have proven to be fast, accurate, and inexpensive for the genetic analysis. According to this cost analysis, it is economically reasonable to use targeted NGS gene panels for genetic screening. [ABSTRACT FROM AUTHOR]

Adrenocortical tumours are rare in children. Virilisation caused by overproduction of adrenal androgens is the most common presentation. The testes of pre-pubertal boys with this tumour are usually small or of pre-pubertal size. A 4.8-year-old boy with an adrenocortical tumour and symmetrical pubertal-sized testes is reported. The serum testosterone level was 204 nmol/L (<0.7), dehydro-epiandrosterone-sulphate 56.7 μmol/L (<1.5) and luteinising and follicle-stimulating hormones were at suppressed levels. Histology demonstrated a diffusely increased mean tubular diameter of 90 μm (the size in a 12-year-old boy) and hyperplasia of Sertoli cells. There were no Leydig cells in the interstitial area. Prolonged exposure to an extraordinarily high testosterone level could have had stimulating effects on the seminiferous tubules and Sertoli cell growth and thus contributed to testicular enlargement. [ABSTRACT FROM AUTHOR]

Background. Long-term outcome data of central precocious puberty (CPP) girls treated with gonadotropin-releasing hormone analogue (GnRHa) are conflicting. Aim. To assess long-term outcome of girls with idiopathic CPP (iCPP) treated with GnRHa Methods. We compared adult height (AH), body mass index (BMI) and time of menarche in GnRHa-treated (n=47) and untreated (n=11) girls with iCPP. Results. There were no differences in age, bone age, height, weight and BMI z-scores, predicted adult height (PAH) at the time of diagnosis and target height between the two groups. Mean (SD) age of GnRHa-treated girls was 8.5 (1.0) years at the start of treatment. Mean (SD) AH of the treated group was greater [158.6 (5.2) vs. 154.8 (5.6) cm], p<0.05. AH gain over pre-treatment PAH in the treated group was 4.7 cm. BMI z-score of treated girls was 1.26 (0.95) before the treatment initiated and returned to normal [0.16 (1.0)] at the time of AH reached. Menstruation occurred at 0.9 (0.5) years following GnRHa discontinuation with regular pattern. Conclusions. Long-term GnRHa therapy has a modest beneficial effect on adult height gain in girls with iCPP. No detrimental effects on increasing BMI and hypothalamic-pituitary-gonadal axis reactivation are demonstrated. [ABSTRACT FROM AUTHOR]

The measurement of biochemical markers of bone turnover is essential in the study of skeletal metabolism in health and diseases. Due to variations in the rate of bone growth in different age groups and possible ethnic differences, age-specific reference ranges for biochemical markers should be established in a particular pediatric population. In this study, biochemical markers of bone formation, bone-specific alkaline phosphatase (BAP), and osteocalcin (OC) in healthy Thai children and adolescents aged 9 to 18 years were evaluated in relation to their ages and pubertal development. Serum BAP levels in boys increased with age and peaked at about 12 to 13 years. In contrast, there was a progressive decline of serum BAP levels with advancing age in girls older than 9 years. Serum OC also increased with age and reached a peak at ages 12 and 13 years in girls and boys, respectively. In addition, both serum BAP and OC levels also varied with pubertal stages. The BAP levels in boys increased sharply at pubertal stage 3 and decreased at pubertal stage 5. In girls, the BAP levels showed a fairly constant high level up to stage 3, followed by a remarkable decrease thereafter. The OC levels in boys increased sharply at pubertal stage 4 and decreased thereafter. In girls, OC started to increase at pubertal stage 3 with no subsequent changes. The levels of serum BAP and OC were higher in boys than in girls at pubertal stages 3 to 5 and at stages 2, 4, and 5, respectively. Moreover, only serum BAP level showed significant positive correlation with height velocity in both genders. In multiple regression analyses, gender, age, and pubertal stage were consistently correlated with both serum BAP and OC levels. In summary, male and female adolescents have different patterns of changes in biochemical markers of bone formation. [ABSTRACT FROM AUTHOR]