ACTA ENDOCRINOLOGICA (BUC)

Meningiomas are the most common benign tumors of the brain, accounting for about 15 to 20% of all primary brain tumors. They are more common in females than in males and are most likely found in the sixth and seventh decades. Meningiomas arise from leptomeninges. Even the hyperostosis of the overlying skull occurs in 15-20% of cases and most of them have the tendency to calcify. The biological one can find hypercalcemia in a patient with cerebral meningioma, only if it associates other diseases like hyperparathyroidism. Between January 2000 and December 2006, in the Department of Pituitary and Neuroendocrine Pathology of the “C.I.Parhon” Institute of Endocrinology, Bucharest there have been admitted 29 patients with primary hyperparathyroidism, 7 males and 22 females. From the 22 women with primary hyperparathyroidism, 3 cases presented multiple endocrine neoplasia type I and 19 sporadic primary hyperparathyroidism. In the same period of time we found in 3 of these cases the association between sporadic primary hyperparathyroidism and cerebral meningiomas. We present the cases of three female patients of 56, 55, respectively 58 years old, diagnosed with primary hyperparathyroidism during the follow-up for nontoxic goiter. Two of them were known with cerebral meningiomas, unsuccessfully surgically approached, while the third one was newly diagnosed with meningioma, based on neuroimaging. There are a couple of studies regarding the association between cerebral meningiomas and the multiple endocrine neoplasia type 1 (MEN 1), but we found in the literature only three cases of both cerebral meningioma and sporadic primary hyperparathyroidism. Clinicians should be aware of the possible association between cerebral meningiomas and primary hyperparathyroidism.

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.

Turner syndrome is one of the genetic disorders studied on their association with celiac disease. We present a 27 year old female with an association of Turner syndrome and celiac disease. Gluten intolerance presenting with atypical extraintestinal symptoms (recurrent aphthous stomatitis, iron-deficient anemia, short-stature) was confirmed by intestinal biopsy showing flat small bowel mucosa (Marsh IIIc lesion) and a peripheral lymphocyte karyotype analysis revealed a Turner syndrome determined by isochromosome 46,X,i (Xq) structural abnormality. Our patient fits perfect into this variant of Turner’s Syndrome presenting at least one autoimmune disorder (celiac disease) and hearing loss. Her clinical, biological and immunological disturbances caused by two irreversible disorders have a poor outcome in the absence of gluten-free diet associated with adequate endocrinologic treatment and need sustained long-term follow - up for a good quality of life.

Abstract Context. Autoimmune progesterone dermatitis (AIPD) is a rare, cyclical dermatosis, with variable clinical presentation, occurring exclusively or being aggravated during the luteal phase of the menstrual cycle, when levels of progesterone rise. Its pathogenesis is still unclear. AIPD is thought to occur as an autoimmune reaction to endogenous possibly modified progesterone, but it could also be triggered by exogenous progesterone exposure. AIPD is a diagnosis of exclusion. Usually there is no or limited response to oral H1 antihistamines and a partial response to steroids. Ovulation inhibitors represent the specific treatment. Case report. We report a case of AIPD in an 18-year-old nulliparous patient with no medical history of allergic diseases and no exposure to oral contraceptive pills. AIPD was suspected based on the clinical picture (recurrent cyclical eczematous eruption on the face and abdominal area) and confirmed by positive intradermal test and positive progesterone challenge. This diagnosis was supported by the result of the skin biopsy, which also helped to exclude other dermatoses with premenstrual aggravation. The rash responded satisfactorily to treatment with a combination of oral contraceptives, levonorgestrel and estrione, which is currently considered first line therapy. Conclusions. This case is of particular interest due to the lack of previous pregnancy or exposure to progesteron therapy. Recurrent, cyclical eruptions in fertile women should raise the suspicion of AIPD. If early recognized, the patient may benefit from non-invasive treatment that improves significantly the quality of life.

Introduction. Hypogonadotropic hypogonadism is an endocrine disease with a major effect on bone tissue turnover leading to bone demineralization and secondary osteoporosis. Case report. A 42 year old man underwent a total left hip joint arthroplasty for a left aseptic femoral head necrosis with an unsatisfactory evolution because of pain, marked functional deficit, limping and instability sensation in the operated lower limb. Five years before the patient was diagnosed with hypogonadotropic hypogonadism presenting gynecomastia, gynoid fat distribution, eunuchoidal skeletal proportions, reduced facial hair, a Tanner III stage of the external genital development, without erectile dysfunction. The unsatisfactory post-operative result was secondary to an aseptic mechanical degradation due to bone mineral loss (secondary osteoporosis) and also application of undersized non-cemented implant. Standard biological analyses did not show modification, the inflammatory tests were negative. The DXA examination, after a period of 2 years without treatment, showed a decrease of bone mineral density and confirms the diagnosis of secondary osteopenia. It was made the decision of surgical intervention and replacement of the uncemented femoral component with a cemented one. After the surgery, the therapy with bisphosphonates, calcium, vitamin D3 and testosterone is reinitiated. Discussion. The clinical outcome of biointegration of a non-cemented prosthesis depends in first of all of the biological status of the patient, with normal BMD, normal calcium and D vitamin levels. The secondary osteoporosis with local aseptic inflammation on the surface of the prosthesis and bone contact led to mechanical failure which maked necessary the revision surgery, in order to replace the prosthesis with a cemented one. Conclusions. In our case the presence of hypogonadotropic hypogonadism with secondary osteoporosis, represents a contraindication for non-cemented total hip joint arthroplasty, due to major risk of loosening.

OBJECTIVE: To report an unusual cause of respiratory failure in a 33-year old Caucasian woman, diagnosed at 26 years with pulmonary lymphangioleiomyomatosis (LAM) and treated with gonadoliberin analogs (aGnRH) four years.\r\nMETHODS: The respiratory failure was diagnosed on functional tests (spirometry, oxymetry, diffusing capacity of carbon monoxide). High resolution chest computed tomographic (HRCT) scan and open lung biopsy with specific immunohistochemistry certified the diagnosis.\r\nRESULTS: The diagnosis of pulmonary LAM was established after one year on chest HRCT and lung biopsy which revealed the proliferation of smooth muscle of pulmonary vessels, positive for actin, desmin, vimentin, estrogen- and progesterone- receptors. Spirometry revealed mixed obstructive and restrictive dysfunction. A correlation between worsening of dyspnea and estradiol peaks occurred during three gestation periods. Despite a short treatment with medroxyprogesterone 10 mg/day and tamoxifen (20 mg/day), the patient?s symptoms and pulmonary function tests worsened. aGnRH treatment improved both symptoms and pulmonary function tests during the first year and was associated with a slow decline in pulmonary function tests and stabilization of the cystic lesions during the following 3 years. The patient did not develop LAM-complications such as: pneumothorax, chylothorax, or hemoptysis.\r\nCONCLUSION: Treatment with aGnRH is effective in slowing the evolution of pulmonary LAM.

Background. Molecular defects in the SHOX gene including deletions, duplications or pathogenic point mutations are responsible for well-known pathologies involving short stature as a clinical manifestation: Léri–Weill dyschondrosteosis, Langer mesomelic dysplasia, Turner syndrome or idiopathic short stature. Duplications flanking the SHOX gene (upstream or downstream of the intact SHOX gene involving conserved non-coding cis-regulatory DNA elements - CNEs) have been described but their clinical involvement is still difficult to understand. Results. We describe two cases with short stature and normal GH-IGF1 status. Multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (arrayCGH) identified in both cases heterozygous duplications involving downstream regions of SHOX gene, within CNEs (CNE8, CNE9 and CNE4, CNE5, CNE6, ECR1, CNE8, CNE9 and surrounding areas, respectively). One of the cases showed a maternally inherited duplication. Although every case has several particularities, we consider that duplications in these non-coding regions of SHOX gene may explain the short stature phenotype. Conclusion. To our knowledge, these are the first Romanian-reported cases of ISS with a large duplication of downstream SHOX enhancers CNEs region. The spectrum of phenotypic consequences and the exact mechanism of the presumed clinical expression of these genetic alterations still needs to be evaluated and described.

A 55-year-old female patient was admitted for flushing and abdominal pain in the right upper quadrant. Her past medical history revealed high blood pressure and a recent echocardiography showed thickened appearance of tricuspid valve with coaptation defect and grade II tricuspid regurgitation. Contrast enhanced abdominal CT scan and MRI were subsequently performed and revealed a large macronodular liver mass, as well as other micronodular lesions disseminated in the liver parenchyma. CT guided biopsy from the main liver mass revealed neuroendocrine tumor of unknown origin (probably GI) with Ki-67 of 8%. Surgical exploration was decided. During laparotomy, the primary tumor was found in the proximal ileum and the patient underwent segmental enterectomy. Non-anatomical hepatectomy was also performed to remove the bulk of the tumor burden (more than 90%). Postoperative course was uneventful and the carcinoid syndrome relieved. At present, 15 months postoperatively, the patient is under treatment with somatostatin analogue for its antiproliferative effect, with good clinical, biochemical and tumoral control and stable heart disease. In patients with neuroendocrine liver metastases from unknown primary, surgical exploration could allow detection (and resection) of the primary tumor and surgical debulking of liver metastases to control carcinoid syndrome and carcinoid heart disease.

We present the case-report of a 56 years-old woman with hypothyroidism due to autoimmune thyroiditis. The family history was positive for biopsy proven celiac disease (CD) in her daughter. The patient declared gluten-containing diet and was completely asymptomatic regarding gastrointestinal tract. The serological screening for CD reflected an activity of the disease by the presence of antiendomysial antibodies (EMA). Consequently, an upper gastrointestinal endoscopy was performed and biopsy specimens were obtained. The standard histopathological examination was unremarkable for a defined CD. However, the results of immunohistological techniques showed intestinal IgA deposits compatible with early developing CD. In patients with family history of CD, even without any suggestive symptoms, high index of suspicion regarding CD should be kept even more in those associating other autoimmune disease.