ACTA ENDOCRINOLOGICA (BUC)

Introduction. Fahr’s syndrome is an infrequent disorder characterized by bilateral symmetrical calcification of basal ganglia and the cerebral cortex. It can be seen genetic, idiopathic, or secondary to endocrine diseases. This disease is related to different metabolic disorders particularly with diseases of the parathyroid gland. Case 1. A 63-year-old female patient applied to our clinic due to having hypoparathyroidism with bilateral basal ganglia calcification in head computed tomography(CT). She had subtotal thyroidectomy 25 years ago. In the neurological examination, mild symmetrical parkinsonism was determined. In laboratory examination Ca:8 mg/dL (8.6- 10.2), P:5.1 mg/dL (2.3-4.5), PTH:9.53 pg/mL (15-65) were detected. Calcitriol 0.25 μ/day was added to her treatment. Her parkinsonism disappeared after the treatment. Case 2. A 49-year-old male patient was consulted when he was admitted to the department of neurology in our hospital. The physical examination demonstrated the characteristics of Albright’s hereditary osteodystrophy. The neurological examination shows bilateral symmetrical bradykinesia, dysphagia, and moderate dysarthria. In the laboratory examination PTH: 46.5 ng/L(15-65), Ca:8.6 mg/dL (8.6-10.2), P:2.7 mg/dL (2.3-4.5) were detected and were all within the normal ranges. Consequently, pseudopseudohypoparathyroidism was decided as a diagnosis. G protein alpha subunit mutation (Gsα) was not detected due to technical limitations. Conclusion. When a patient is diagnosed as Fahr’s syndrome, we should keep in mind parathyroid disorders. Fahr’s syndrome must be evaluated in patients showing intracranial calcification accompanied by parathyroid diseases.

Context. Graves' disease is the most prevalent cause of hyperthyroidism worldwide. Adiponectin, the most abundant adipokine, plays a significant role in a cluster of prevalent diseases connected to metabolic disorders. Objective. Although the association between adiponectin and Graves' disease has been studied, the existing data is inconsistent. Therefore, we conducted this systematic review and meta-analysis to evaluate the relationship between adiponectin levels and Graves' disease. Methods. We performed a systematic electronic search on PubMed, EMBASE, Scopus and Cochrane Library using predefined keywords. We used the NHLBI quality assessment tools to assess the included studies. Results. There were 11 studies involving 781 subjects included in our qualitative synthesis, while 6 studies were included in our quantitative synthesis. We observed significantly increased adiponectin levels in Graves' disease patients compared to controls (MD 2.983 [95% CI 0.138– 5.828]) and hypothyroidism patients (MD 3.389 [95% CI 1.332–5.446]). Nevertheless, no significant MD was observed when comparing Graves' disease patients with and without Graves' ophthalmopathy (MD -27.124 [95% CI -88.893 – 34.645]). Conclusions. Adiponectin levels were significantly higher in patients with Graves' disease compared to controls and hypothyroidism patients. However, patients with and without Graves' ophthalmopathy did not present a significant mean difference in adiponectin levels.

We report a case of an infant with syndromic 46,XY disorder of sexual development. The subject was born at term, to unrelated parents with no relevant medical history. At birth the infant was assigned female. Physical examination showed dysmorphic features and ambiguous external genitalia. Cytogenetic analysis of cultured peripheral blood lymphocytes revealed a male karyotype. The result of the chromosomal investigation showing male genetic sex, together with the ambivalent aspect of the external genitalia (Prader IV) and gonads that are exclusively testes led to the diagnosis of 46,XY disorder of sexual development. The clinical management will help the child and the family deal effectively with this condition A multidisciplinary approach to this problem involving pediatricians, specialists in the field of endocrinology, genetics, surgery and psychiatry is necessary in order to reach a prompt and correct diagnosis and treatment.

A 74 year old lady presented with difficulty in breathing and hypoxia. She was initially treated as pulmonary embolism\r\n(PE). However, confirmatory tests did not suggest the diagnosis of PE. Further tests gave the diagnosis of an ovarian carcinoid presenting with shortness of breath and\r\nhypoxia. After an initial treatment with Octreotide, she underwent salpingooophorectomy. She became asymptomatic and made an uneventful recovery. Ovarian carcinoids can\r\nproduce carcinoid syndrome without the presence of hepatic metastases. Here we provide a short review on ovarian carcinoids.

Cushing syndrome (CS) is a severe clinical condition caused by prolonged and inappropriate exposure to cortisol. Excluding exogenous cortisol excess, adrenocorticotropic hormone (ACTH) secretion from a pituitary adenoma, also called Cushing disease (CD), represents by far the most common CS etiology. Since Harvey Cushing first reported the classical clinical syndrome over 100 years ago, much clinical progress has been made, however disease management remains a challenge both in terms of diagnosis and treatment.Treatment is often complex and may require surgery, medical management and radiotherapy. Here we focus on the key findings of recent clinical trials with new therapeutic agents (1-3) and discuss how these new treatments fit in the armamentarium for patients with CD.

Thyroiditis developing post pituitary surgery in a case of TSH secreting tumor has been reported, albeit rarely. A 46 year old female was treated as a case of hypothyroidism for almost five years, however, TSH levels remained unsuppressed in spite of increasing thyroxine doses. A cyclic pattern of TSH with T3 secretion was observed after stopping thyroxine, though T4 levels were normal. T3 suppression test revealed a non suppressed TSH and MRI sella revealed a pituitary mass with Grade 1 cavernous sinus invasion. With a diagnosis of TSH secreting tumor, the patient was initiated on octreotide therapy. TFT normalized within 4 days of initiation of octreotide, tumor size reduced by about 30% within 2 months of therapy and goiter size reduced to almost half with octreotide therapy. Anti TPO levels which were initially negative became positive within a month of octreotide therapy and FNAC thyroid revealed thyroiditis. To the best of our knowledge, this is the second case report of development of thyroiditis after octreotide therapy. The immunomodulatory role of TSH and somatostatin may have a role in the development of thyroiditis in this case.

Objectives. The present paper aims to investigate the effects of both progesterone and progestin treatment mainly related to the occurrence of breast cancer in women. Materials and methods. Extensive systematic bibliographic review of Greek and International articles was conducted through the electronic databases Pubmed, Cinahl, Uptodate, and Google Scholar for the identification of articles related to progesterone, progestins and breast cancer treatment. Results. Hormone therapy with the use of estrogen alone presents a small increased risk or does not present at all an increased risk of breast cancer. With ORs in some studies below 1.0 in current users for 3 plus years and safe option until 7 years, while in other studies the risk was increased with the ORs 1.29. However, the use of estrogen in combination with progestogens, depending on the type of progestogens, shows an increased risk of breast cancer, with the ORs to vary between 1.14- 2.38 from 3 to 5 years and is inversely proportional to the time of its use. This risk varies depending on the combination of the preparations. Other factors that are associated with breast cancer risk when receiving hormone therapy are the years that hormone therapy is taken, directly proportional to the risk. At higher risk are older women, women with low body mass index in menopause (BMI <25kg/m2) and women with increased mammographic breast density. Continued use of hormone therapy is associated with an increased risk for breast cancer compared to sequential. The risk became visible sooner to women who used in the past hormone therapy and were using it again. Starting hormone therapy in the immediate postmenopausal period also increased the risk for breast cancer. Hormone therapy was associated with tumors with positive estrogen and progesterone receptors, and also the lobular histological type was associated with its use. Tibolone use was associated with an increased risk.

Background. Adrenal myelolipoma is a rare benign tumor composed of adipose tissue and hematopoetic elements resembling bone marrow. The majority of myelolipoma do not produce adrenal hormones and are only found as a result of evaluation for another disorder. With the widespread use of non-invasive abdominal imaging for various reason, its incidental detection has become more common. There are a few cases of breast cancer with concomitant adrenal myelolipoma in the literature. Case. A 43-year-old woman presented to endocrine clinic due to presurgical assessment of adrenal mass prior breast cancer surgery. Abdominal CT showed a 9 x 8 cm sized, lobulated contour heterogeneous fatty density mass with peripheral calcification in right adrenal gland. Hormonal studies for adrenal incidentaloma revealed: Aldosterone/ Renin ratio, 0.70 ([normal range < 30]; normal DHEA-S, 85.0 μg/dL ([normal range, 80 -560 μg/dL]), ACTH 25 pg/ mL ([normal range, 10 – 60 pg/mL]), morning serum cortisol 8.9 μg/dL ([normal range, 5 - 12 μg/dL]). In 24-hour urine, there revealed free cortisol 21.6 μg/day ([normal range, 10 – 50 μg/day); metanephrine 0.19 mg/day ([normal range < 0.8 mg/day]); 17-ketosteroid 14.06 mg/day ([normal range, 7 – 20 mg/day]). The hormonal results of adrenal mass revealed as nonfunctioning. The adrenal mass was surgically resected in order to rule out malignancy. Pathology report showed myelolipoma. Conclusion. We reported a case of adrenal myelolipoma coexisting with breast cancer where the diagnosis was made incidentally based on radiological features, treated with surgical resection.

Context. Autoimmune thyroid disease is considered a multifactorial disorder in which autoimmunity against thyroid antigens is facilitated by exposure to endogenous and environmental factors. We present here a rare case of identical female twins who developed consecutively Graves’ disease within a few months and had three HLA susceptibility alleles for the development of Graves’ disease. Subjects. A 28-year-old woman was referred to our hospital complaining of thirst, sweating, palpitations, tremor and skin rash. Laboratory data showed hyperthyroidism with antibodies against the thyroid stimulating hormone receptor and ultrasonography of the thyroid revealed enlargement with hypervascularity. Her identical twin was referred to our hospital because of similar symptoms. Result. We diagnosed them with Graves’ disease and both were treated with methimazole. Human leukocyte antigen genotyping showed that both twins possessed the DRB1*04:05, DQB1*04:01:01, DPB1*05:01 haplotype, which confers susceptibility to Graves’ disease. Conclusions. This case supports the hypothesis that interaction of multiple human leukocyte antigen susceptibility alleles as well as genetic background and environmental factors might synergistically contribute the close timing in Graves’ disease onset.