ACTA ENDOCRINOLOGICA (BUC)

-

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.

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.

The maintenance of bone mass is critically dependent on the balance between bone formation by osteoblasts and bone resorption by osteoclasts, processes in which osteocytes play also an important role. The activities of these bone cells are regulated by a variety of endocrine and paracrine factors of which sex steroids, parathyroid hormone, 1.25(OH)2- vitamin D3, glucocorticoids, retinoids and thyroid hormones are the most well known systemic factors. To the long list of locally acting factors belong cytokines and growth factors. This list was extended some 15 years ago by the discovery of the very important role of the WNT signalling system for the maintenance of bone mass. The first evidence of its role was the findings that mutations in the LRP5 gene, encoding a co-receptor in WNT-signaling, could result in either gain or loss of bone mass, i.e. either high bone mass or osteoporosis. This was a most unexpected observation since no indications existed prior to this discovery that the WNT signalling system had a role in bone remodeling. Since then, many observations have been made demonstrating the important role of different WNTs in regulating bone formation and resorption. Interestingly, some of these findings have demonstrated that trabecular and cortical bone are regulated by different mechanisms. It is the aim of the present overview to give the readers an insight into the WNT signalling system and its role in bone remodeling.

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.