Browsing by Author "Oestreicher, E"

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    Bilateral oophorectomy in a pregnant woman
    (2005) Villaseca, P; Campino, C; Oestreicher, E; Mayerson, D; Serón-Ferré, M; Arteaga, E
    Background: A 16 week pregnant woman presented with massive theca-lutein cysts requiring bilateral oophorectomy. Pregnancy progressed uneventfully and spontaneous lactation ensued after delivery. Methods: To study the role of the ovary on the hormonal profile at the end of gestation and in post-partum, we measured FSH, estradiol (E-2), unconjugated estrone (E-1), unconjugated estriol (E-3), sex hormone-binding globulin, progesterone, dehydroepiandrosterone sulphate and prolactin at 37 weeks gestation and at 8 h, 4 days, 5 weeks, and 2 months post-partum. Results: These hormones were within the range expected for ovary-intact pregnant and puerperal women until 4 days post-partum. At 5 weeks post-partum, FSH increased to a peri-menopausal range (31.4 IU/l) while estrogens remained within the normal puerperal range (E-2=239 pmol/l; E-1=102 pmol/l), contrasting with their rapid changes in non-pregnant women after bilateral oophorectomy. At 2 months, while partially breastfeeding, FSH, E-2 and E-1 were closer to menopausal range (68 IU/l, 136 and 70.2 pmol/l respectively), and hormone replacement was started. Conclusions: We conclude that the ovary is not required to maintain a normal hormonal profile in late pregnancy and early puerperium. However, the increase in FSH to peri-menopausal levels at 5 weeks post-partum, despite breastfeeding, suggests that the ovary is needed to maintain low FSH concentrations during lactation.
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    Ethinylestradiol/cyproterone acetate in polycystic ovary syndrome: lipid and carbohydrate changes
    (PARTHENON PUBLISHING GROUP, 2004) Villaseca, P; Hormaza, P; Cardenas, C; Oestreicher, E; Arteaga, E
    Objective Ethinylestradiol (EE) combined with the antiandrogenic progestin cyproterone acetate (CPA) is a possible treatment in polycystic ovary syndrome (PCOS). We investigated the impact of EE/CPA on lipid and carbohydrate metabolism in women with PCOS,who were otherwise healthy.
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    Evidences for mineralocorticoid excess in essential hypertension
    (2000) Cortes, P; Fardella, C; Oestreicher, E; Gac, H; Mosso, L; Soto, J; Foradori, A; Claverie, X; Ahuad, J; Montero, J
    Background: Primary hyperaldosteronism is more frequent among subjects with essential hypertension than previously thought. The prevalence, according to local and international evidence could fluctuate between 9 and 10%. Aim: To investigate if subjects with essential hypertension have different aldosterone and renin plasma levels than normotensive subjects. Patients and methods: One hundred twenty five subjects with essential hypertension, not receiving medications for a least two weeks prior to the study and 168 age and sex matched normotensive controls were studied. Blood was drawn between 9 and 10 AM during a sodium free diet to determine plasma aldosterone, plasma renin activity and potassium. Results: Plasma aldosterone was higher in hypertensive subjects than controls (11.6 +/- 7.6 and 9.9 +/- 5.1 ng/dl respectively; p = 0.04). Plasma renin activity was lower in hypertensives than controls (1.42 +/- 1.28 and 1.88 +/- 1.39 ng/ml/h respectively; p < 0.001). Thus, plasma aldosterone/plasma renin activity ratio was higher in hypertensives (13.8 +/- 13.5 and 8.3 +/- 7.8; p < 0.001), A pathological ratio was defined as over 25, corresponding to the mean plus two standard deviations of the control group. Primary hyperaldosteronism was found in 5/125 hypertensives (4%) and 1/168 normotensive subject (0.6%). None had hypokalemia. Conclusions: Subjects with essential hypertension have higher plasma aldosterone and lower plasma renin activity than normal controls. A plasma aldosterone/plasma renin activity over 25 was defined as abnormal.
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    Genetic studies in dexamethasone supressible aldosteronism.
    (2001) Fardella, C; Pinto, M; Mosso, L; Oestreicher, E; Montero, J
    We report two women presenting with parathyroid cysts. A 20 years old woman presented with goiter and a cystic lesion in the left thyroid lobe was identified on ultrasound examination and CAT scan. The patient had hypercalcemia and elevated PTH levels. The content of the cyst, obtained by needle aspiration, had an extremely high PTH concentration. The patient was operated, removing the cyst and a remaining thymus. Pathological study confirmed the diagnosis of a parathyroid cyst. An 11 years old girl presented with a mass in the left thyroid lobe. An ultrasound examination disclosed the presence of a cystic nodule. The patient was otherwise asymptomatic and laboratory work up was normal. The patient was operated and pathological examination of the surgical piece revealed a parathyroid cyst.
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    Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism
    (ENDOCRINE SOC, 2004) Carrasco, CA; Gonzalez, AA; Carvajal, CA; Campusano, C; Oestreicher, E; Arteaga, E; Wohllk, N; Fardella, CE
    Primary hyperparathyroidism may occur as part of hereditary syndromes, including multiple endocrine neoplasia types 1 and 2A (MEN1 and MEN2A), hyperparathyroidism-jaw tumor syndrome, and the familial isolated hyperparathyroidism (FIHP). It is unclear whether FIHP corresponds to a different genetic entity or a variant of MEN1 ( or hyperparathyroidism-jaw tumor syndrome). We report a patient and 11 family members with FIHP in whom we identified a heterozygous G-to-A mutation at nucleotide 7361 of tumor suppressor MEN1 gene. This mutation is located in the first base of intron 9 (IVS9 + 1 G>A). All the family members with hyperparathyroidism were heterozygous for the intronic mutation. In vitro studies were performed in COS cells transfected with minigenes carrying the coding regions spanning exon-intron 9 and 10 with the mutant and the wild-type sequences. RT-PCR analyses showed an abnormal mRNA of greater size ( 829 bp) in the mutated MEN1 gene than the normal transcript ( 629 bp). The longer PCR product includes the exon 9, the unspliced intron 9, and part of exon 10. RT-PCR of MEN1 mRNA from patient's blood confirmed the existence of unspliced intron 9 in mature mRNA. In summary, we report a case of FIHP associated with a new intronic heterozygous germline mutation (IVS9 + 1 G> A) of MEN1 gene. This mutation produces an aberrant splicing of mRNA that could lead to a truncated protein, without activity, explaining the clinical picture of this patient and his family.
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    Salt-wasting congenital adrenal hyperplasia: Detection of mutations in CYP21B gene in a Chilean population
    (ENDOCRINE SOC, 1998) Fardella, CE; Poggi, H; Pineda, P; Soto, J; Torrealba, I; Cattani, A; Oestreicher, E; Foradori, A
    The steroid 21-hydroxylase deficiency (21OHD) is the most frequent cause of congenital adrenal hyperplasia. We have characterized the disease-causing mutations in the 21-hydroxylase genes of 63 patients with salt-wasting congenital adrenal hyperplasia from a Chilean population of Hispanic origin, a group that has been scarcely evaluated. Using allele-specific PCR, lesions were identified in 97 chromosomes out of 126 tested (77%). The most frequent findings were the gene deletion or large gene conversion (LGC) = 22.9%, I2 splice = 19%, R357W = 12.7%, and Q319X = 10.5%. We did not find alleles with the mutation F308insT and we found three alleles with the cluster E6. The frequency of the point mutation R357W was at least two times more frequent than the one found in Caucasians populations, but similar to that communicated in Asian populations; this finding may be explained by the Asian ancestry of our South-Amerindian population. The frequency of Q319X was also high, similar only to those patients studied in Italy and in a neighboring Argentinian population. In summary, this is a genetic characterization of 21OHD made in an almost pure Hispanic population in Latin America. The high frequency of deletion of CYP21B gene, I2 splice, R357W, and Q319X mutations probably reflects the European-Caucasian-Spanish influence of the conquerors, mixed with Amerindians of Asian ancestry and modulated by other European immigrations.
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    The A-6G mutation in the angiotensinogen gene is associated to high levels of aldosterone in essential hypertensives
    (1999) Fardella, C; Zamorano, P; Gomez, L; Oestreicher, E; Pinto, M; Rojas, A; Montero, J; Soto, J; Mosso, L; Foradori, A
    The treatment of papillary thyroid carcinoma of less than 10 mm diameter is a matter of controversy. The incidental finding of papillary microcarcinomas in autopsies is frequent and some authors postulate that these tumors are biologically inactive and should only be observed. We report a 21 years old woman with a papillary thyroid cancer of 6x5x5 mm and bilateral paratracheal metastases, that was subjected to a total thyroidectomy. She received 200 mCi of radioiodine. Two years after surgery, a new nodule of 9.6 mm diameter was detected by ultrasound, that was treated with a new dose of 200 mCi of radioiodine. One year later a suprasternal mass of 2 cm diameter and 3 enlarged lymph nodes were detected. She was subjected to a surgical lymph node dissection of the neck and the biopsy confirmed the presence of cancer. She received a new dose of 300 mCi of radioiodine. The mother of the patient had a 7 mm thyroid nodule that was also a papillary carcinoma.