Giant plurihormonal pituitary adenoma in a child - case study.

OBJECTIVES: To describe the case of a 12-year-old girl with a rare plurihormonal pituitary macroadenoma secreting prolactin (PRL), growth hormone (GH), thyroid-stimulating hormone (TSH), and alpha subunit (α-SU). CASE PRESENTATION: The patient experienced recurrent headaches and progressing loss of vision in one eye. During the examination, abnormalities such as tall stature, coarse facial features, enlarged feet and hands, tachycardia, hand tremor, hyperhidrosis, galactorrhea, and goiter were observed. Head magnetic resonance imaging (MRI) revealed a solid tumor in the anterior and middle cranial fossa, measuring 80 × 50 × 55 mm. A stereotactic biopsy revealed plurihormonal Pit-1 positive pituitary adenoma secreting PRL, GH, and TSH. A pituitary hyperfunction with PRL, GH, TSH, and α-SU excess was diagnosed. The patient was successfully treated pharmacologically with dopamine agonists and somatostatin analogue, and a decrease of tumor volume (30%) was achieved. CONCLUSIONS: When neurosurgery is not possible, long-term pharmacological treatment of plurihormonal pituitary macroadenoma can be a safe and relatively effective alternative.

Ectopic ACTH production by thymic and appendiceal neuroendocrine tumors - two case reports.

OBJECTIVES: Ectopic adrenocorticotropic syndrome (EAS) causes approximately 10-18% of cases of Cushing's syndrome (CS) in adults, while in children it occurs much less frequently. CASE PRESENTATION: We report two cases of neuroendocrine tumors (of the thymus and the appendix) in a 12-year-old boy and a 15-year-old girl who presented with the clinical features of CS. Elevated serum cortisol, ACTH, and chromogranin levels were observed in both patients. Diagnoses were made on the basis of a mass in the thymus/appendix region visualized with chest/abdominal CT scan and radiotracer accumulation in scintigraphy in the same areas. Histopathological examinations confirmed the diagnoses of NET. CONCLUSION: EAS is an extremely rare endocrine disorder. However, it should be taken into consideration in the diagnostic process of every case of ACTH-dependent CS.

Traditional and New Methods of Bone Age Assessment-An Overview

Bone age is one of biological indicators of maturity used in clinical practice and it is a very important parameter of a child's assessment, especially in paediatric endocrinology. The most widely used method of bone age assessment is by performing a hand and wrist radiograph and its analysis with Greulich-Pyle or Tanner-Whitehouse atlases, although it has been about 60 years since they were published. Due to the progress in the area of Computer-Aided Diagnosis and application of artificial intelligence in medicine, lately, numerous programs for automatic bone age assessment have been created. Most of them have been verified in clinical studies in comparison to traditional methods, showing good precision while eliminating inter- and intra-rater variability and significantly reducing the time of assessment. Additionally, there are available methods for assessment of bone age which avoid X-ray exposure, using modalities such as ultrasound or magnetic resonance imaging.

Ki67 as a prognostic factor of craniopharyngioma's recurrence in paediatric population.

PURPOSE: Craniopharyngioma is one of the most frequent benign tumours of the central nervous system in the paediatric population. Although it is a benign tumour according to the WHO classification, it significantly deteriorates the patient's quality of life. The aim of this study is to assess if proliferation index Ki67 can be a useful marker of the risk of craniopharyngioma's recurrence. METHODS: Expression of Ki67 was examined in 85 specimens of primary craniopharyngioma and in 11 specimens of the recurring tumour. In all the cases, adamantinomatous type of craniopharyngioma was diagnosed. Values of Ki67 expression were compared between patients with and without recurrence, between patients with progression and relapse and between primary and recurrent tumours. RESULTS: No statistically significant differences were found between proliferation index Ki67 values in tumours with recurrence and without (median values 2.5% and 3%, respectively, p = 0.69). The median value of proliferation index Ki67 in progression group was 1% and in the relapse group 4%; no statistical significance between those groups was found (p = 0.067). The median value of proliferation index Ki67 in primary tumours was 3% (0-20%) and in recurrent tumours it was 5% (0-14%). Despite the lack of statistical significance (p = 0.61), a tendency towards higher values of Ki67 in recurring tumours in comparison with primary tumours was shown. CONCLUSIONS: Proliferation index Ki67 is not a reliable prognostic factor of craniopharyngioma's recurrence.

Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) - case reports with literature review.

INTRODUCTION: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare form of ACTH-independent Cushing's syndrome (CS). Half of patients with PPNAD are sporadic cases and the other half familial. MATERIAL AND METHODS: We present two patients with PPNAD confirmed by genetic analysis. RESULTS: In both patients there were no abnormal findings on diagnostic imaging of both adrenals and heart. Patients underwent bilateral two-stage adrenalectomy. Histopathological examination confirmed PPNAD. Genetic testing showed the following mutations in the PRKAR1A gene coding for the regulatory subunit type 1A of the protein kinase A enzyme: c.125dupG (patient 1) and c.15dupT (patient 2). Both these defects lead to inactivation of the PRKAR1A protein and are consequently causative of PPNAD in these patients. CONCLUSIONS: The novel mutations presented in this article are considered to be pathogenic for PPNAD.

Symptomatic Rathke cleft cyst in paediatric patients - clinical presentations, surgical treatment and postoperative outcomes - an analysis of 38 cases.

BACKGROUND: Rathke cleft cysts (RCC) are benign, epithelium-lined intrasellar and/or suprasellar cysts believed to originate from the remnants of the Rathke pouch. The aim of this study was to analyse the symptoms and surgical outcome of patients with the diagnosis of RCC verified in a histopathological examination of the postoperative material. METHODS: The study is a retrospective analysis of 38 cases of children who underwent a neurosurgical treatment due to RCC at the Children's Memorial Health Institute in Warsaw, Poland, between 1994 and 2015. RESULTS: At diagnosis, the mean age was 13 years and 8 months (6 years and 11 months-17 years and 10 months, sex ratio was 1:0.9 with a female prevalence). The most common symptoms were the following: headache (50%), hypothyroidism (50%), short stature and/or decreased growth velocity (47%), delayed puberty and menstrual abnormalities (37%), diabetes insipidus or polydipsia and polyuria (26%), adrenal dysfunction (26%), sleepiness and general weakness (13%) and visual disturbances (11%). Due to the gravity of symptoms and size of the lesion, all the patients underwent a surgical treatment. All but one were successful (one patient died due to postoperative neurosurgical complications). The most common postoperative complications were the following: adenohypopituitarism (67%) and diabetes insipidus (45%). CONCLUSIONS: RCC can present with serious symptoms that significantly deteriorate patients' quality of life. Despite a successful neurosurgical treatment in most of the analysed cases, patients required long-term pharmacological treatment.

Interactions between the growth hormone and cytokines - A review.

Numerous reports on the interactions between the immune and endocrine systems, especially growth hormone axis, can be found in the literature. Growth hormone acts mainly indirectly through insulin-like growth factor-1, which stimulates the growth and development processes, metabolism of lipids, proteins, and carbohydrates, and it also has a modulating effect on the cells of the immune system. Several studies have been conducted on the influence of growth hormone therapy on the immunological parameters in children and adults with and without growth hormone deficiency. However, there have been no definite results and some of them have been even contradictory. Some studies have suggested that administration of growth hormone increases the production of tumor necrosis factor and certain pro- and anti-inflammatory cytokines; whereas other studies have demonstrated the lack of correlation between growth hormone and interleukins. The aim of this paper was to evaluate the available literature on the interaction between growth hormone and TNF-α, pro-inflammatory (IL-1ß, IL-2, IL-6) and anti-inflammatory (IL-4, IL-10) interleukins.