Resistencia a hormonas tiroideas no asociada a mutación de la isoforma beta del receptor de hormonas tiroideas: caso clínico / Thyroid hormone resistance not associated to mutation on the beta isoform of the thyroid hormone receptor: report of one case

Thyroid hormone resistance (RTH) is inherited as an autosomal dominant trait, with variable clinical presentations. The hallmark of the syndrome is a variable degree of resistance to thyroid hormones, with high levels of circulating thyroid hormones, inappropriately normal or elevated TSH values and a clinical pattern of mixed hypothyroidism and hyperthyroidism. RTH is related in more than 85 percent of cases to thyroid hormone beta receptor mutations. We report a 11 years female with a history of treatment with propylthiouracil (PTU) for hyperthyroidism, presenting with a progressive goiter. Thyroidectomy was performed, removing 233 grams of thyroid tissue showing follicular hyperplasia. After surgery, a fast growth of the remnant thyroid gland was observed along with tachycardia. Laboratory showed a TSH of 38 mU/mL a triiodothyronine level of 300 ng/dL a thyroxin level of 14.8 ug/dL and a free thyroxin of 3.19 ng/dL, suggesting the diagnosis of RTH. The molecular study was negative for mutation of the beta isoform of thyroid hormone receptor. The possible theories that can explain these findings are discussed.

Radioterapia como indicación post operatoria en macroadenomas hipofisiarios no funcionantes: a propósito de un caso / Surgical treatment of a non functioning pituitary macroadenoma without postoperative radiotherapy: report of one case

We report a 45 years old female that consulted for amenorrhea and galactorrhea after discontinuing oral contraceptives, that she used for several years. The patient had hyperprolactinemia, a hypogonadotrophic hypogonadism and a primary hypothyroidism. Sella turcica magnetic resonance showed a pituitary macroadenoma with a diameter of 23 mm and supraselar extension. The patient was subjected to a transsphenoidal excision of the tumor with good clinical and surgical results. Therefore radiotherapy was not used for the treatment of the tumor.

Resultados Terapéuticos en pacientes acromegálicos: es tiempo de intervenir / Results of surgical treatment for acromegaly in 53 patients

Background: The treatment of choice for acromegaly is surgery that, according to the literature, is curative in 91 percent of pituitary microadenomas and 73 percent of macroadenomas. Aim: To report the results of surgical treatment in 53 patients with acromegaly. Material and methods: Retrospective review of medical records of all patients with acromegaly, operated between 1984 and 2004. When necessary, patients were contacted by telephone to complete information or to perform biochemical or imaging studies. A normal value of insulin like growth factor I (IGF-1) for age and sex, a growth hormone (GH) nadir of less than 1 ng/ml during a glucose tolerance test or a basal GH of less than 2.5 ng/ml, all assessed three months after surgery, were considered as criteria for cure. Results: Biochemical cure was achieved in 67 percent of patients with pituitary microadenomas and 21 percent of patients with macroadenomas. In 47 percent of patients with neuro-ophtalmological involvement, a partial or total recovery in the visual field defect was achieved. The most common surgical complications were transient diabetes insipidus in 19 percent, persistent diabetes insipidus in 4 percent and cerebrospinal fluid fistula in 4 percent. A lower size of the tumor and lower preoperative growth hormone levels were associated with a better chance of cure. Conclusions: The cure rates obtained in this group of patients are clearly lower than those reported abroad. These results stress the importance of having a national registry of acromegaly and the need to train neurosurgeons in the treatment of pituitary tumors.

¿Pseudohipoparatiroidismo o déficit de vitamina D? / Pseudohypoparathyroidism or vitamin D deficiency? Report of one case

Pseudohypoparathyroidism is characterized by a resistance to parathormone, with variable phenotypical and biochemical manifestations. Its diagnosis is difficult. We report a 28 years old male presenting with a hypokalemic periodic paralysis. His serum PTH was elevated to 1,343 and 1,101 pg/ml with concomitant hypocalcemia of 7.9 and 6.7 mg/dl. Twenty four hour urinary calcium and serum 25 hydroxy vitamin D were normal. Bone mineral density was normal. The patient was managed with calcitriol in doses of 1 to 2 µg/d, associated to calcium 2 g/day. Serum calcium levels and PTH normalized after two months and six months of treatment respectively.

Hipertiroidismo gestacional: análisis a propósito de un asociado a mola / Gestational hyperthyroidism associated to molar pregnancy: a case report

We report a 18 years old woman that was admitted with a history of four days of cardiac failure with acute pulmonary edema, high blood pressure, left ventricular dilatation and moderate to severe systolic dysfunction. Twenty four hours after admission she had a miscarriage, expelling a mole. The diagnosis of hyperthyroidism caused by a mole and early pre eclampsia was confirmed and the patient was managed with diuretics and dopamine. Symptoms abated, thyroid function tests, cardiac function and size returned to normal values and the patient was discharged asymptomatic, ten days after admission