Familial isolated pituitary adenomas (FIPA). Case report of four families and review of literature.

Background The majority of pituitary adenomas are sporadic, but about 5% of them occur in a familial setting, predominantly in multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenomas (FIPA), unrelated to the syndromes mentioned above, were also described. The clinical course of FIPA differs significantly from sporadic cases, and is characterized by a larger tumor size, more aggressive course and younger patients' age at the moment of recognition. Objectives The aim of this retrospective study is to present 4 families in which two closely related people were diagnosed with pituitary adenomas. Probably these cases are clinical manifestations of FIPA. Material and methods Eight patients within four families, presenting with anterior pituitary tumors were described. The authors analyzed medical and family histories of the patients, their imaging pictures (pituitary MRI/CT) and hormonal tests. Results Family 1.: two sisters with acromegaly in the course of macroadenoma. Family 2.: two brothers with clinically nonsecreting macroadenomas. Family 3.: father and daughter with clinically nonsecreting macroadenomas. Family 4.: young man with acromegaly caused by macroadenoma and a daughter of his mother`s sister with microprolactinoma. CONCLUSIONS: Familial isolated pituitary adenomas are more common than it was previously thought, therefore, specific questioning regarding family history should be a part of the workup of all patients with pituitary adenomas. Genetically induced pituitary tumors often have aggressive behavior in terms of tumor expansion and resistance to different treatment options and often involve a multidisciplinary approach that combines endocrine, neurosurgical, and radiological specialists.

Coexistence of diabetes mellitus type 1 with diffuse systemic sclerosis - case report and literature review.

Diabetic sclerodactyly is a frequently recognized skin finding that may occur in patients with diabetes mellitus but coexistence of diabetes and systemic sclerosis is rare. We describe a case of coexistence of type 1 diabetes mellitus and systemic sclerosis in 42-year-old man with the history of Raynaud's phenomenon, progressive diffuse hardening of the skin and sclerodactyly, slowly worsening with time. The medical history included type 1 diabetes since childhood with microvascular complications. The patient presented a typical capillaroscopic scleroderma-like pattern, antinuclear antibodies and sclerotic lesions in gastrointestinal system. Summing up, our case represents the rare coexistence of autoimmune diseases like diabetes mellitus type 1 and systemic sclerosis.

Long-term complete remission of Crooke's corticotropinoma after temozolomide treatment.

INTRODUCTION: Crooke's corticotropinomas are the unique cause of Cushing's disease. The majority of them are aggressive macroadenomas, refractory to conventional therapy, with a high recurrence rate. The aim of the study was the presentation, in relation to data from the literature, of a case of a patient with ACTH-dependent Cushing's syndrome caused by recurrent Crooke's cells corticotropinoma, who achieved 33-month complete remission after treatment with temozolomide (TMZ). CASE REPORT: A 54-year-old man was diagnosed with Cushing's disease five years earlier on the basis of a typical clinical picture and hormonal tests. MRI revealed 32 × 29 × 24 mm macroadenoma. The patient underwent three subtotal selective transsphenoidal adenomectomies without retirement of hypercortisolaemia. A postoperative pathologic exploration revealed a densely granulated corticotroph Crooke's cells adenoma with MIB-1 index < 1%. Because of the large size of the tumour with its expansion to both cavernous sinuses and suprasellar region together with a compression of the optic chiasm, the patient was disqualified for gamma-knife. Due to an exhaustion of all conventional therapeutic options the patient was qualified to TMZ therapy. The standard dose of TMZ (150 g/m²) for five days every 28 days was implemented. After three courses of TMZ pronounced regression of tumour size with a marked hormonal and clinical improvement was certified. After six courses, consecutive tumour regression was observed. Nine courses resulted in a total radiological tumour shrinkage and hormonal normalisation. Despite the cassation of TMZ treatment the complete remission of the disease maintained for 33 months. CONCLUSION: Temozolomide can be an effective treatment option in invasive Crooke's cell corticotropinoma. (Endokrynol Pol 2016; 67 (5): 526-533).

[Autoimmune polyglandular syndromes - literature review and analysis of clinical course in chosen cases]. / Zespoly autoimmunologicznych zaburzen wielogruczolowych - przeglad pismiennictwa oraz analiza przebiegu choroby u wybranych przypadków.

Autoimmune polyglandular syndromes (APS) are the conditions characterized by coexistence of at least two organ-specific endocrine autoimmune disorders. The syndromes often coexist with connective tissue diseases with the presence non-organ specific antibodies. The aim of the study was to present two clinical cases of polymyositis and dermatomyositis in the course of APS type 3d. Case 1, a 24-year-old woman, with diabetes mellitus type 1 was diagnosed at the age of 17 years and polymyositis recognized at the age of 24 years based on clinical manifestations and additional tests (proximal muscle weakness, typical electromyographic changes, typical histopathological changes in skin and muscles biopsy, elevated muscle enzymes) accompanied by interstitial lung disorder. Moreover, Hashimoto`s autoimmune thyroiditis was diagnosed. Case 2, a 47-year-old man, with a several-year history of diabetes mellitus type 1, diagnosed with dermatomyositis and autoimmune thyroiditis. The immunosuppressive therapy was instituted in both cases, which reduced the symptoms of connective tissue disease. To sum up, about 25-30% of patients are affected by extraglandular autoimmune diseases, including connective tissue diseases, in the course of APS. An interdisciplinary approach is required in this group of conditions due to a multitude of disorders as well as diagnostic and therapeutic difficulties.

Temozolomide-Induced Shrinkage of Invasive Pituitary Adenoma in Patient with Nelson's Syndrome: A Case Report and Review of the Literature.

Introduction. Invasive tumours in Nelson's syndrome need aggressive therapy. Recent reports have documented the efficacy of temozolomide (TMZ) in the treatment of adenomas resistant to conventional management. Objective. The review of the literature concerning TMZ treatment of atypical corticotroph adenomas and a case study of 56-year-old woman who developed Nelson's syndrome. Treatment Proceeding. The patient with Cushing's disease underwent transsphenoidal adenomectomy followed by a 27-month-long period of remission. Due to a regrowth of the tumor, she underwent two reoperations followed by stereotactic radiotherapy. Because of treatment failures, bilateral adrenalectomy was performed. Then she developed Nelson's syndrome. A fourth transsphenoidal adenomectomy was performed, but there was a rapid recurrence. Five months later, she underwent a right frontotemporal craniotomy. Due to a rapid regrowth of the tumour, the patient did not receive gamma-knife therapy and was treated with cabergoline and somatostatin analogue for some time. Only TMZ therapy resulted in marked clinical, biochemical, and radiological improvement. To date, this is the first case of invasive corticotroph adenoma in Nelson's syndrome treated with temozolomide in Poland. Conclusion. In our opinion, temozolomide can be an effective treatment option of invasive adenomas in Nelson's syndrome.

Thyroid diseases in patients with acromegaly.

Acromegaly often involves the presence of different pathologies of the thyroid gland. Long-lasting stimulation of the follicular epithelium by growth hormone (GH) and insulin-like growth factor 1 (IGF-1) can cause disorders in thyroid function, an increase in its mass and the development of goitre. Acromegalic patients present most frequently with non-toxic multinodular goitre. Nodules are more prevalent in patients with active acromegaly. It has been suggested that then thyroid size increases and it can be reduced through treatment with somatostatin analogues. The relationship between thyroid volume and the level of IGF-1 and the duration of the disease is unclear. Each acromegalic patient requires a hormonal and imaging evaluation of the thyroid when the diagnosis is made, and an accurate evaluation during further observation and treatment. Although the data concerning the co-occurrence of acromegaly and thyroid cancer still remain controversial, it is particularly important to diagnose the patient early and to rule out thyroid cancer.

Type 2 diabetes mellitus in relation to place of residence: evaluation of selected aspects of socio-demographic status, course of diabetes and quality of life--a cross-sectional study.

INTRODUCTION AND OBJECTIVE: This study aims at answering what are the differences in socio-demographic status of patients with type 2 diabetes living in the city and the countryside and what is the impact of a place of residence on the level of metabolic control, the incidence of complications of diabetes and quality of life (QoL). MATERIALS AND METHODS: 274 patients were divided into 2 groups: residents of rural areas-28.2% (n=77) and residents of urban areas-71.9% (n=197). Self-reported questionnaires was used: EQ-5D, DQL-BCI and DSC-R. RESULTS: The group of residents of the countryside was characterized by a lower income and education level and a higher number of persons with disability pension. Patients living in the country had a higher body mass index in comparison to town inhabitants (32.6 kg/m(2) vs 30.9 kg/m(2), p=0.008) and shorter diabetes duration (8.4 versus 11.3 years, p=0.008). There were no differences between residents of the countryside and towns in terms of the method of treatment (oral antidiabetic drugs: 70.1% and 65.5%, p=0.3, Insulin: 29.9% and 36.5%, p=0.3, respectively), occurring chronic complications of diabetes (retinopathy: 14.3% and 14.2%, neuropathy: 6.5% and 7.6%, coronary heart disease: 44.45 and 37.1%, respectively) and the availability of diabetologists. Patients living in the countryside did not differ from town inhabitants in metabolic control and QoL assessment (EQ-5D index: 0.80 vs 0.79, p=0.9, EQ-VAS: 56.2 vs 54.3, p=0.2, DQL-BCI: 56.0 vs 53.9, p=0.1, DSC-R: 29.6 vs 29.4, p=0.7). CONCLUSIONS: The socio-demographic differences between groups dependent on the place of living did not exert a significant influence on the level of metabolic control of diabetes, the incidence of late complications or QoL assessment in the population studied.

Acromegaly in a patient with normal pituitary gland and somatotropic adenoma located in the sphenoid sinus.

Ectopic acromegaly is a very rare clinical entity occurring in less than 1% of acromegalic patients. In most cases it is caused by GHRH or rarely GH-secreting neoplasms. Even rarer are ectopic pituitary adenomas located in the sphenoid sinus or nasopharynx that originate from pituitary remnants in the craniopharyngeal duct. This dissertation presents the difficulties in visualizing GH-secreting adenoma located in the sphenoid sinus. A 55-year-old man had somatic features of acromegaly for several years. MRI imaging revealed a slightly asymmetric pituitary gland (14 yen 4 mm) without focal lesions. Simultaneously, a spherical mass, 10 mm in diameter, corresponding with ectopic microadenoma was demonstrated on the upper wall of the sphenoid sinus. The serum GH level was 4.3 mg/l, IGF-1 = 615 mg/l, and a lack of GH suppression with oral glucose was proven. After preliminary treatment with a long-acting somatostatin analogue, transsphenoidal pituitary tumour removal was performed. Histopathological, electron microscopical and immunohistochemical analysis revealed densely granulated somatotropic pituitary adenoma: GH(+), PRL(-), ACTH(-), TSH(-), FSH(-), LH(-), MIB1 < 1%, SSTR3(+) and SSTR5(+). Post-surgical evaluation showed normal pituitary MRI scans, GH and IGF-1 levels 0.18 mug/l and 140 mg/l, respectively, as well as normal GH suppression with oral glucose. The careful analysis of possible pituitary embryonic malformations points out their significance for proper localization of extrapituitary adenomas.

[Ultrasonographic evaluation of kidneys in type-2 diabetes patients without overt nephropathy and with chronic renal failure]. / Ultrasonograficzna ocena nerek chorych na cukrzyce typu 2 bez objawów jawnej nefropatii i w okresie zaawansowanej niewydolnosci nerek.

Ultrasonographic evaluation of the kidney size is a useful method for assessment of the progression and in some cases the type of nephropathy. Diabetic nephropathy in type 2 diabetes is not only the cause of chronic renal failure (CRF), but also non-diabetic renal diseases. Besides giving the clinical picture, USG evaluation can be useful for qualification of the main cause of CRF in type 2 diabetes patients (pts). In the study we attempted to evaluate if type 2 diabetic pts without nephropathy have significant changes in the USG kidney picture compared with type 2 diabetic pts with CRF. The study was conducted on two groups of type 2 diabetic pts. Group I consisted of 44 pts (18 men, 26 women) without overt nephropathy with mean creatinine clearance (CrC) calculated by Cockcroft-Gault formula 78.7 +/- 3 ml/min. Group II consisted of 48 pts (23 men, 25 women) with CRF: 30 pts with mean CrC 25.8 +/- 2 ml/min and 18 CAPD (continuous ambulatory peritoneal dialysis) pts. The mean age was similar in both groups (62.5 vs 64.5). Small kidney was defined when USG kidney length was less than 9 cm. In Group I 33 pts (75%) had normal size kidneys, 11 pts (25%) had small kidneys with postinflammatory changes, and 3 pts had single cysts. In Group II 9 pts (18.8%) had normal size kidneys. We found small kidneys in 39 pts (81.2%) and single cyst in 7 pts (15%). None of the patients had acquired cystic kidney disease. In our study we found that most of type 2 diabetic pts with CRF had small kidneys which means that they had ischemic, hypertonic or inflammatory nephropathy accompanying type 2 diabetes.