ACTA ENDOCRINOLOGICA (BUC)

OBJECTIVE: To report an unusual cause of respiratory failure in a 33-year old Caucasian woman, diagnosed at 26 years with pulmonary lymphangioleiomyomatosis (LAM) and treated with gonadoliberin analogs (aGnRH) four years.\r\nMETHODS: The respiratory failure was diagnosed on functional tests (spirometry, oxymetry, diffusing capacity of carbon monoxide). High resolution chest computed tomographic (HRCT) scan and open lung biopsy with specific immunohistochemistry certified the diagnosis.\r\nRESULTS: The diagnosis of pulmonary LAM was established after one year on chest HRCT and lung biopsy which revealed the proliferation of smooth muscle of pulmonary vessels, positive for actin, desmin, vimentin, estrogen- and progesterone- receptors. Spirometry revealed mixed obstructive and restrictive dysfunction. A correlation between worsening of dyspnea and estradiol peaks occurred during three gestation periods. Despite a short treatment with medroxyprogesterone 10 mg/day and tamoxifen (20 mg/day), the patient?s symptoms and pulmonary function tests worsened. aGnRH treatment improved both symptoms and pulmonary function tests during the first year and was associated with a slow decline in pulmonary function tests and stabilization of the cystic lesions during the following 3 years. The patient did not develop LAM-complications such as: pneumothorax, chylothorax, or hemoptysis.\r\nCONCLUSION: Treatment with aGnRH is effective in slowing the evolution of pulmonary LAM.

Objective. Congenital hypothyroidism (CH) is one of the common preventable causes of intellectual disability in neonates, by early detection through neonatal screening. We present the 8-year experience of the National Institute for Mother and Child Health (INSMC) in using MEDILOG national registry for the neonatal screening of CH. Methods. Neonatal screening for CH, done by TSH measurement in dried blood spot, is organized in 5 regional centers, each with a reference laboratory. Results. In 2018 80% of all the newborns, from 80% of the maternity hospitals, were registered in MEDILOG. After re-testing of TSH and T4/FT4 from venous blood in positive cases, the incidence of confirmed CH in 2018 was 1/3576 - 1/ 4746. In INSMC center (which includes 26 counties and Bucharest, out of 41 counties), in 2018 the incidence of positive CH cases at screening was 1/2094 (TSH cut-off ≥17 mIU/L) and of confirmed CH cases 1/3576 newborns. For positive screening cases, the median duration from birth to the INSMC laboratory result was 19 days: median of 9 days between screening and laboratory registration and 6 days between registration and test result. Conclusion. MEDILOG registry is a practical instrument for monitoring the steps of neonatal CH screening, the incidence of CH, the evolution of the diagnosed cases, for evaluation of iodine deficiency (by neonatal TSH), and also for research, with the aim of improving early disease detection and treatment.

Context. The role of cortisol in modulating the inflammatory response upon an immune challenge is well documented. Objectives. We aim to assess cortisol levels related to inflammatory status in children with persistent fever and low respiratory tract infection (LRTI). Patients and methods. Thirty five children hospitalised with fever above 38oC for more than 10 days and clinical features of LRTI were enrolled. Immunoglobulins, C-reactive protein (CRP) and cortisol were measured at the admission and after 12 days. Results. From 35 patients, 29 had a satisfactory evolution and 7 had a complicated course of disease. In patients with a satisfactory outcome, the mean value of cortisol at the admission was at the upper limit of the reference range, CRP and immunoglobulin G (IgG) are significantly higher versus reference limit (p<0.05). Children with a severe evolution had a significantly lower cortisol level than those with good evolution, at the lower limit of reference range (p<0.001), and correlated with low levels of CRP and immunoglobulins; cortisol and CRP showed a slight increase after 12 days corresponding with a prolonged course of disease.Conclusions. Cortisol measurement might aid value in early identification of patients requiring initiation of antibiotherapy, corticotherapy or other intensive management strategies.