ACTA ENDOCRINOLOGICA (BUC)

Cardiovascular disorders represented by congenital malformations, hypertension, aortic dilatation which can emerge in dissection or rupture and ischemic heart disease are common in Turner syndrome (TS) and life-threatening. Echocardiography and magnetic resonance imaging represent complementary diagnostic methods used to assess cardiovascular status. Unfortunately, normal reference ranges for cardiac and aortic measurements are established only in unselected TS patients, preventing a delineation between patients with and without cardiovascular pathology. We performed echocardiography in 15 patients with TS, aged 12-33 years (mean 21.8 years, standard deviation 6.37 years) without cardiovascular and renal malformations, hypertension or aortic dilatation and 30 normal controls; karyotype was 45,XO in 11 patients and 45,XO/46,XX in four patients. To minimize the influence of body size, ratios of aortic and cardiac chambers dimensions were calculated. As expected, we found smaller dimensions in TS versus controls but only the ascending aorta, left atrium and diastolic left ventricular diameters and the ratio diastolic / systolic left ventricular diameters reached statistical significance. Only aortic dimensions were entirely independent of age, height, weight and BMI with a 95% confidence interval of 14.28 – 25.32 (mean 19.8) mm for the aorta at the annulus and 95% CI 21.42 – 29.36 (mean 25.54) mm for the ascending aorta. The ratios ascending aorta/ systolic left ventricular diameter (95% confidence interval 0.54 – 1.34; mean 0.94), aorta at the annulus/systolic left ventricular diameter (95% CI 0.44 – 0.92; mean 0.68) and aorta at the annulus/ diastolic left ventricular diameter (95% CI 0.36 – 0.61; mean 0.49) are independent of age, height, weight and can also be reliable for detection of aortic dilatation.

Objective: Thyroid development was studied mainly on animal models and data in humans are scarce. Knowing that there are interspecies differences and a specific timing of thyroid development we aimed to reveal intimate aspects of the human foetal morphology and function.\r\nMaterial and method: Thyroids from 20 aborted fetuses of different gestational ages (8-16 weeks) were embedded in paraffin, sectioned, coloured and immunohistochemically processed using the Avidin-Biotin Complex–Peroxidase (ABC) method with a pannel of antibodies aimed to reveal the secretory activity (antithyroglobulin monoclonal and polyclonal and anti TITF1 antibodies), the differentiation of intermediate filaments (anti AE1/AE3, anti CK7 and antivimentin monoclonal antibodies), of C cells (anti CEA monoclonal antibodies) and of the thyroid vascular net (anti CD34 monoclonal antibodies).\r\nResults: Thyroglobulin expression was present in thyrocytes cytoplasm even before follicles are formed (8-10 weeks); after 12 weeks appeared also within the colloid and expression increased after 14 weeks showing a luminal pattern of distribution similar to the mature thyroid. TITF1 was present in the thyrocytes nuclei of all groups, weak till 14 weeks and intense thereafter and in the C cells nuclei. C cells appeared after 10 weeks and expressed CEA, vimentin and CK7. Immunostaining for keratins (AE1/AE3, CK7) was rarely positive in cordonal thyrocytes, but was present in follicular thyrocytes and increased with gestational age. Some thyrocytes of all groups were vimentin positive and showed coexpression with cytokeratins. CD 34 expression indicated an early vascular differentiation being present in isolated endothelial cells before 10 weeks and structured capillaries after 10 weeks of gestational age.\r\nConclusions: Immunohistochemistry proved to be a useful tool in our attempt to shed light on human thyroid development which would permit a better pathogenic understanding of thyroid dysgenesias and thyroid neoplasms.

We present a 18 year old phenotypic female patient who presented for primary amenorrhea. Pelvic ultrasound revealed a hypoplastic uterus and CT scan showed a hypoplastic right gonad and a left gonadal tumor with extrapelvic location. Karyotype was 46XY. Hormonal assessment indicated hypergonadotropic hypogonadism: FSH was 39.69 mUI/ml, estradiol was 28.07 pg/ml, testosterone was 0.17 ng/ml. DHEA level was high – 21 ng/ml. Gonadectomy was performed at 15 years and histologic examination diagnosed left gonadoblastoma and right teratoma in a dysgenetic gonad. The patient had a good postoperatory evolution. Menses were induced with estrogenic and then estroprogestogenic treatment. Plastic breast surgery was performed at 18 years. Establishing the genotypic sex in patients with primary amenorrhea represents a crucial step knowing that intersex disorders bearing Y chromosomal material have a high risk for gonadoblastoma and germ cell tumors.