ACTA ENDOCRINOLOGICA (BUC)

Our study aimed to evaluate clinical, endocrine and genetic aspects in three patients with Noonan syndrome and to establish genotype – phenotype correlations. Noonan syndrome is a frequent autosomal dominant disorder, characterized by distinctive facial features, short stature, congenital heart defects, unusual chest shape, broad/ webbed neck, cryptorchidism and developmental delay. GH therapy initiated early adds 1 SD to final adult height. We have identified common features that are very suggestive for the diagnosis, as well as the changing of facial aspect in time. In case 2 we recorded a milder phenotype than expected for KRAS mutations. In case 3 we identified new features (severe scoliosis and ventricular septal defect) as well as more severe clinical features than expected for SOS 1 mutations. We have detected particular patterns of growth in our patients before and after GH therapy. Unlike literature data, our PTPN11 mutation positive child reacted very well to GH, whereas our KRAS mutation positive case started to gain Ht only after 3 years of GH therapy. We have recorded hypertrophic scars either as a new feature of NS, or as a possible adverse event of GH therapy. GH therapy was successful in our patients, without classical adverse events recorded. Somatotropic axis dysfunction is discussed.

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Introduction. Orbitopathy is a common extrathyroidal feature of Graves’ disease. Initial immune infiltration may be followed by irreversible fibrosis and hypertrophy of extraocular muscles, leading to exophthalmos, diplopia and optic nerve compression. Surgery can improve the quality of life by adapting orbit volume to its content through orbital expansion and/or decompression and through interventions for functional or aesthetical reasons. Aim. To evaluate the impact of orbit surgery on the evolution of Graves’ ophthalmopathy. Patients and Methods. Our series includes 21 patients, operated between 2006 and 2012 mainly for proptosis (16 cases) or diplopia (5 cases). Results. Emergency orbit decompression was performed in one patient in the acute phase due to vision loss, reversible after intervention. Orbital extraconal lipectomy was used in all patients, involving both intraconal and extraconal fat in five cases. Unilateral bone decompression was needed in two interventions. 7 patients developed upper eyelid retraction, treated with botulinum injection in the levator palpebrale. Another patient showed lower lid retraction, elongated with palatal mucosal graft. Conclusion. Adequate surgery should be chosen for each case in an integrated multidisciplinary approach. Both intraorbital fat removal and bone decompression could be concomitantly used in certain patients with severe orbitopathy. Surgery should be performed in stabilized orbitopathy, but emergency intervention might be beneficial in acute onset of vision loss due to optic nerve compression.

Background. The modifications of blood pressure and lipid metabolism, the decrease of heart contractility and the increase of systemic vascular resistance that accompany hypothyroidism are caused by the decreased action of thyroid hormones. Objective. The purpose of this study is to evaluate, using echocardiography, the changes of the heart functional parameters in patients with untreated thyroid dysfunctions. Pacients and Methods. Study group included 348 patients for an evaluation of cardiovascular and thyroid status. The control of the thyroid condition was conducted using measurements of the FT3, FT4 and TSH levels, echocardiographic measurements defining the parameters of the function of the left ventricle. Results. The study group was divided into subclinical hypothyroidism (SH, 75 cases), overt hypothyroidism (OH, 123 patients) and normal thyroid function (C, 150 patients). TSH values decreased (from 5.8±15 mUI/L to 2.28±0.63 mUI/L in SH and from 20.23±17.33 mUI/L to 4.24±0.24 mUI/L in OH) after one year of treatment while fT4 and fT3 increased. The parameters obtained revealed significant decreases of the E/A ratio in both groups with hypothyroidism. The isovolumetric relaxation time was significantly higher in SH and OH as compared to the control group (C: 112.50±35.45 msec, SH: 118.75±16.52 msec p<0.05, OH: 130±41.83 msec p<0.001). In addition, the tissue Doppler revealed significant decreases of the E’/A’ ratio, measured septally and laterally in the group with overt and subclinical hypothyroidism. Conclusion. In hypothyroidism the systolic and predominantly diastolic function of the left ventricle are impaired. These dysfunctions are reversible under L-T4 substitutive treatment.