We present a 7-year-old girl with a 2-year history of decelerated growth rate and cushingoidal obesity, upon admission presenting with fi xed hypertension. Cyclic hypercortisolemia with inhibited baseline and post-CRH stimulation ACTH level pointed to primary adrenal hypercortisolemia. Ultrasound, computed tomography (CT) and magnetic resonance imaging (MRI) showed normal adrenal glands. 131 J-labeled cholesterol scintiscan showed a weak but slightly more expressed tracer uptake in the left adrenal gland. Cushing syndrome concomitant with isolated primary pigmented nodular adrenocortical disease (PPNAD) was diagnosed. After hypotensive pretreatment, a left adrenalectomy was performed, resulting in normalization of corticoadrenal function, blood pressure, Cushing features and growth rate. Histopathology confi rmed PPNAD. In the course of infection, corticoadrenal function showed absence of adrenal reserve, and adrenal crisis. Hydrocortisone (HC) therapy, followed by HC supplementation was introduced. Four years later, a contralateral adrenalectomy was performed and total HC supplementation was introduced.Causes and consequences of abandoning one-stage bilateral adrenalectomy recommended in PPNAD are reviewed.
Primary hyperparathyroidism (PHP) in children is a rare condition and has a very dynamic course with nonspecific symptoms, what complicates the diagnosis and delays PHP treatment. Case presentation: A 15-year-old boy was admitted to the Orthopedic Ward with the diagnosis of juvenile bilateral slipped capital femoral epiphysis and valgus deformities. Gait disturbances, limb pains and valgus knee deformities, polyuria, polydipsia and weight loss, have been increasing for 8 months. Despite the hypercalcemia found in laboratory tests and bone destruction demonstrated in computed tomography of the hips, orthopedic correction was performed. In histopathological examination -brown bone tumors. The PTH concentration was determined (PTH -589.1 pg/ml; (N: 10-60) and the child was referred to the Department of Pediatric Endocrinology, where severe hypercalcemia (Ca -4.07 mmol/l, N: 2.2-2.84) and hypophosphatemia (P -0.68 mmol/l; N: 0.95-1.75) and adenoma of the left lower parathyroid gland was diagnosed. Forced diuresis, loop diuretics and pamidronic acid were used to obtain normocalcemia. The complications of hypercalcemia were excluded; diagnostic management excluding multiple endocrine neoplasia type 1 and 2a (MEN 1 and MEN 2A) syndrome were performed. The child was referred to the Department of Endocrinological Surgery, where the adenoma of the left inferior parathyroid gland was resected. Conclusions: 1) Patients with PHP should be diagnosed of the condition based on clinical symptoms. In patients with specific symptoms, it is necessary to determine serum Ca levels, especially prior to the surgical procedures. 2) In each case of PHP, determinations should be made of blood PTH, Ca and P and detection of MEN 1 and MEN 2A syndromes. 3) Patients with hyperparathyroidism require management of multiorgan complications of hypercalcemia. 4) Following surgical treatment of parathyroid adenoma, longterm endocrinological follow-up is necessary.
The availability of densitometry, determinations of concentration levels of vitamin D, bone turnover markers, and FGF23, combined with progress in genetic diagnostic management allow for an increasingly precise evaluation of developmentalage calcium phosphate metabolism disturbances. It should be remembered that 90% of the peak bone mass is formed by the end of puberty; thus, a proper diagnosis and treatment of disturbances of the calcium phosphorus metabolism in children are a decisive factor affecting the risk of fractures and comfort of life in adults. Attention has recently been focused on the necessity of vitamin D supplementation and on monitoring vitamin D concentration levels, and an increasing number of reports address the association between the VDR gene polymorphism and numerous diseases, but a thorough analysis of the calcium phosphate metabolism is still performed too rarely. Proof may be found in the delayed diagnosis of hyperparathyroidism in children; in spite of the fact that the condition is markedly less common in children as compared to adults, in the former patients its course is highly dramatic. The incidence of primary hyperparathyroidism in children is 2-5/100,000, while other authors report 1/200-300,000, whereas in adults the incidence rate is 1/1000 individuals [1-3]. Contrary to adults, in the majority of children -as many as 79-99% -the course of the disease is fully symptomatic, which may result from a higher dynamics of metabolic processes and faster bone turnover in the growth period. Numerous authors emphasize the role of erroneous and markedly delayed diagnostic management of hypercalcaemia symptoms, with the time lapse from the appearance of the initial symptoms to establishing the diagnosis ranging from several months to 2-3 years, which was also confirmed by our observations [2][3][4]. Children demonstrating weakness and body mass loss, polyuria, polydipsia, bone deformities, 2
Introduction: Some storage diseases, caused by a deficiency of a specific enzyme, which results in the systemic accumulation of non-metabolized substances, can be treated with enzyme replacement therapy (ERT), which can protect many organs, including the endocrine system. The aim of the study was to assess the function and morphology of the thyroid gland in children with storage diseases treated with ERT, and to review the literature. Material and methods: Eight patients were included in the study: 3 with Fabry disease (age: 17; 9.9; 10 years), 3 with Hunter's disease (12.3; 4.1; 9,3), and 2 with Pompe disease (6.8; 9,5). Thyroid function and morphology were assessed in each patient during ERT, and 4 of them were reassessed 27 months later. Results: One patient with Fabry disease had been treated for hypothyroidism due to autoimmune thyroiditis diagnosed before the study. The remaining patients had normal thyroid tests and negative anti-thyroid antibodies at first and second evaluation; however, in all reassessed patients a decrease in TSH value was noted. Among the remaining patients with Fabry disease, one had normal and a second had heterogeneous echogenicity of the thyroid during first assessment. In the second patient, normalisation of echogenicity was observed at reassessment. Both patients with Pompe disease assessed once had slightly heterogeneous thyroid echogenicity. In 3 patients with Hunter's disease in the first ultrasound examination, no abnormalities were found. In re-evaluation, 2 of them showed heterogeneous thyroid echogenicity. Conclusions: We conclude that patients with storage diseases should undergo assessment of thyroid function and morphology before and during ERT.
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