Mixed gonadal dysgenesis: whole life follow-up of a rare case.

There are two forms of gonadal dysgenesis - mixed and pure. In the mixed form, some differentiated gonads as well as some either ovarian or testicular rudiments are present. This form results in a number of phenotypes with a possibility of malignant transformation. In the pure form occurring in female gender, also some rudimental gonads are bilaterally present. In the case of simultaneous presence of Y chromosome, also some malignant transformation may appear (Siklar et al. 2007). Chromosomal aberrations are present in 2-7 % adult pairs with fertility disorders and in 0.6 % of newborns. However, only few cases with similar chromosomal aberrations were described so far (Roubin et al. 1977; Alexander et al. 1978; Teyssier et al. 1982; Caglayan et al. 2009). Mixed gonadal dysgenesis presents as a unilateral testis, usually intraabdominal, also with a streak gonad on contralateral side, and persistent mullerian structures. 45X/45XY karyotype is the most frequent in such cases with predominance of 45X cells in both peripheral lymphocytes and gonads. We present a rare case of a left undescended testis, normally descended right testis, with penoscrotal hypospadias, who had a normal karyotype and whose histopathological findings were endometrial tissue and fallopian tube in left testicular biopsy. Gonadal dysgenesis should always be kept in mind because of a possibility of undescended testis and proximal hypospadias. If karyotype reveals a 46XY gonadal dysgenesis, these patients need the careful follow-up to screen for gonadoblastoma in remaining normal testis. Subjecting the patients to prophylactic orchidectomy with hormone replacement can be an additional option in such patients.

[Autoimmune polyendocrine syndrome type 2 associated with autoimmune hypophysitis and coeliac disease]. / Autoimunitný polyglandulárny syndróm typ 2 asociovaný s autoimunitnou hypofyzitídou a coeliakiou.

Autoimmune polyendocrine syndromes (APS) are organ-specific autoimmune disorders affecting multiple endocrine glands; these are gradually destroyed by action of autoantibodies. Similarly to other autoimmune diseases, the presence of certain genetic predisposition is an essential prerequisite to the disease development; polymorphism of the main histocompatible system (HLA in humans) appears to play the most important role. APS are categorized into four types, based on what combination of endocrine glands is affected. APS type 1, characterised by hypoparathyreosis, mucocutaneous candidiasis and Addison's disease, is frequently seen in childhood. For a more common APS type 2 to be diagnosed, Addison's disease together with autoimmune thyroiditis (Schmidt's syndrome) and/or together with diabetes mellitus type I (Carpenter's syndrome) must be present. The third type of autoimmune polyendocrine syndromes (APS type 3) involves the same disorder of endocrine glands as type 2 but usually without any defect of adrenal cortex. If the autoimmune endocrine gland disorder does not fulfil the criteria of APS 1-3, the disease may be categorized as autoimmune polyendocrine syndrome type 4. The authors present a case of 33 years old APS type 2 patient who, over 20 years, developed a wide range of autoimmune endocrinopathies, including endocrinopathies that are less common, such as adenohypophysitis, and are associated with other organ-specific diseases (coeliac disease). The case is presented to demonstrate the fact that APS represent a dynamic process and that it is always important to keep in mind that, over time, a patient may develop other autoimmune diseases. To conclude, the authors emphasise the recommendation to test patients with monoglandular endocrinopathy for the presence of any secondary endocrine disorders.

[Genetic background of adrenal cortex tumours--news]. / Genetické pozadie nádorov kôry nadobliciek--aktuality.

This review has summarized the current knowledge of the genetic background of tumors originating from adrenocortical tissue, manifested as a part of inherited or familial syndromes, as well as specific forms of sporadic tumors caused by aberrant expression of G-protein coupled receptors.

[Genetic background of tumors originating from adrenomedullar and extraadrenal chromaffin tissue--update]. / Genetické pozadie nádorov adrenomedulárneho a extraadrenálneho chromafinného tkaniva--aktuality.

It is anticipated that an inherited/familial forms of pheochromocytomas cause approximately 20% of all pheochromocytomas. Therefore, the classic "rule of 10" axioma used to remember the key features of disorder is invalid. Various mutations in several genes have been identified, which underly syndromes with paragangliomas and/or pheochromocytomas. The more candidate genes, the less numbers of patients with apparently sporadic forms of the disorder. This review has summarized the current knowledge of the genetic background of tumors orginating from adrenomedullar and extra-adrenal chromaffin tissue.

Effect of growth hormone replacement therapy on plasma brain natriuretic peptide concentration, cardiac morphology and function in adults with growth hormone deficiency.

OBJECTIVE: The impact of growth hormone (GH) replacement on plasma brain natriuretic peptide (BNP) in association with cardiac morphology and function in adults with growth hormone deficiency (GHD) was evaluated. SUBJECTS AND METHODS: Fifty nine adult patients with GHD (29 men, age 19-59 years) received a starting dose of 0.1-0.2 mg/day recombinant GH, which was subsequently adjusted to the 50th percentile of normal serum insulin-like growth factor (IGF-1) over a 6 month period. Plasma BNP and IGF-I levels before, 3 and 6 months after treatment were determined, as were the echocardiographic data, such as ejection fraction (EF), left ventricular end-diastolic volume (LVEDV), left ventricular end-diastolic diameter (LVEDD), interventricular septal thickness (IVST), posterior wall thickness (PWT), left ventricular mass (LVM), E/A wave and deceleration time (DT). RESULTS: Mean plasma BNP levels (53.1+/-8 pg/ml) and echocardiographic parameters were within the normal range at baseline, although men had higher LVM, IVST, PWT, LVEDV and LVEDD, respectively. A significant decrease in plasma BNP was observed after 6 months (27+/-5.6 pg/ml, P<0.05). No significant changes in echocardiographic parameters were observed except for a mild tendency to increase in LVM, and a borderline decrease in DT (181+/-8.1 vs. 155+/-9 ms, P<0.01). CONCLUSIONS: Six months GH replacement therapy induced a significant decrease in plasma BNP levels despite the majority of patients having plasma BNP within the normal range at baseline. A borderline decrease in diastolic deceleration time was observed, the clinical significance of which is unclear.

The low-dose (1 microg) cosyntropin test (LDT) for primary adrenocortical insufficiency: Defining the normal cortisol response and report on first patients with Addison disease confirmed with LDT.

BACKGROUND: The validity of low-dose 1 microg cosyntropin test (LDT) is reported mainly for the assessment of secondary adrenocortical insufficiency (AI). Likewise the hypothalamic-pituitary disorders, early diagnosis of the initial or partial stages of primary AI has an important role. OBJECTIVE: The aim of study was to: 1) establish the normal cut-off level at which the stimulated plasma cortisol (FP) in LDT excludes primary AI; 2) compare the results in elderly subjects to those in younger ones; 3) compare the results between normal and obese subjects; and 4) verify the established cut-off values on the sample of patients suspected to have primary AI. SUBJECTS AND METHODS: 110 subjects (99 women and 11 men, aged 19-80 years, mean 46.2+/-16.1 years, without suspicion for impairment of the hypothalamo-pituitary-adrenal axis were recruited to undergo the LDT in standard conditions. Control group consists of 30 patients (22 women and 8 men, aged 7-58 years, mean 38.4+/-10.6 years) evaluated in whom for suspicion of primary AI as suggested by LDT was confirmed by supplemental investigations (elevated ACTH levels, positive autoantibodies against 21-hydroxylase, mutational analysis of corresponding genes). RESULTS: The mean peak FP level at 30 min (FP (30)) of the subjects was 675+/-85 nmol/L (95% CI=659 to 691 nmol/L), thus reference values expressed as mean+/-2 SD were 505-845 nmol/L. There was a significant negative correlation between basal FP values (FP (0)) (434+/-105 nmol/L) and the absolute FP incremental (FP (Delta)) response varying from 52 to 553 nmol/L (median 230 nmol/L) (r=-0.71; P<0.001). FP (30) was higher in elderly subjects (n=27) in comparison to younger subjects (n=25) (689+/-88 nmol/L vs. 642+/-63 nmol/L, u=2.11, P<0.05) due to higher FP (Delta) (274+/-116 nmol/L vs. 175+/-112 nmol/L; u=4.02, P<0.01) ; FP (30) levels in obese subjects (n=27) did not differ from those with normal BMI (n=33) (694+/-100 nmol/L vs. 667+/-65 nmol/L, u=1.31, P>0.05). We did not find any correlation between body weight or body surface area and FP (0), FP (30) or FP (Delta). Post-stimulation FP (30) levels in the control group varied from 0 to 354 nmol/L with median 64 nmol/L (25 (th) percentile 10 nmol/L; 75 (th) percentile 165 nmol/L) and were entirely distinctive from those of the subjects without adrenal impairment ( P<0.001). CONCLUSIONS: Taking the mean -2 SD result as a threshold, FP value of 500 nmol/L can be consider as cut-off at 30 min in the LDT for defining the intact adrenocortical function, independently of age and body weight, body surface area.

[Septo-optic dysplasia--omitted interdisciplinary clinic entity: report on three patients]. / Septo-optická dysplázia--opomínaná medziodborová klinická jednotka: popis troch prípadov.

On example of three patients with septo-optic dysplasia the authors present a rare clinical entity involving combined disturbances of endocrine and neurologic systems and variable expressed clinical triad: 1) pituitary aplasia/dysplasia with pituitary hormones deficiency, 2) developmental disturbance of the middle-brain structures (corpus callosum and septum pellucidum), and 3) dysplastic changes of the optic nerve. The knowledge about components belonging to the competence of other specialists and awareness of consequences of untreated hypopituitarism, are imperatives for interdisciplinary cooperation of ophthalmologist, neurologist, radiologist, and endocrinologist. Moreover, they predict early initiation of the adequate and often vital therapy. Molecular-genetic studies in patients with septo-optic dysplasia represent a way to better knowledge about early stages of the pituitary gland and brain development.

Primary B-cell pituitary lymphoma of the Burkitt type: case report of the rare clinic entity with typical clinical presentation.

Primary CNS lymphomas (PCNSLs) constitute 3% of all intracranial neoplasms. From these, primary pituitary lymphomas (PPLs) represent extremely rare clinical entity. Nearly all of PCNSLs are non-Hodgkin diffuse large B-cell lymphomas. We present a 60-year-old female with right-sided third cranial nerve palsy, mild bitemporal visual field deficit, severe cephalea, and polyuria-polydipsia. Hypopituitarism with hyperprolactinemia was confirmed; brain imaging revealed a 16 mm-diameter sellar mass with suprasellar extension. A presumptive diagnosis of pituitary adenoma was established. The patient underwent a neurosurgical intervention. Histopathological examination and immunophenotyping (cytokeratin, CD45+, CD79+, bcl-2-) verified high-grade B-cell non-Hodgkin lymphoma of the Burkitt type. Systemic work-up showed no other foci of lymphoma, the patient's HIV status was negative, Epstein-Barr virus status was not disclosed. Although PPL can be undistinguishable from pituitary adenoma at imaging, one should consider lymphoma when evaluating an invasive sellar mass that is iso- to hypointense on T2-weighted magnetic resonance images, particularly when the patient is immunocompromised or old and presents with diabetes insipidus, cranial nerve palsy and fever of unknown origin in addition to the expected finding of hypopituitarism.

[Adrenocortical disorders in pregnancy]. / Adrenokortikálne choroby v gravidite.

Adrenocortical disorders in pregnancy are rare, but unrecognized of them are associated with higher maternal and fetal morbidity. The diagnosis is more complicated because of physiologic changes hormones and frequently lacking normative datas during pregnancy. Therefore increased attention could allow early diagnosis and treatment, that improve prognosis for both the mother and fetus.

[Incidence of thyroid cancer in Slovakia: extensive evidence from one centre in the context of national data]. / Incidencia zhubných nádorov stítnej zl'azy v slovenskej republike: viacrocné skúsenosti z jedného pracoviska v kontexte celoslovenských úidajov.

BACKGROUND: In this paper the authors summarise the primary malignant thyroid tumors (p.m.t.t.) incidence data from their centre over the period 1984-2005. The results are explained in the context of the p.m.t.t. incidence data from the National Cancer Register (1996 2002). METHODS AND RESULTS: Overall, 6434 thyroid operations were indicated and carried out during the sampling period at the authors' institution, of which 365 cases were histologically confirmed p.m.t.t. (5.7% of all histological findings). Specifically, p.m.t.t. were diagnosed in 295 women (80.8%) and 70 men (19.2%), with the most frequent occurrence in the 5th decade and a higher recent incidence in younger age groups. Whereas follicular thyroid carcinomas predominated in the 1984-1989 period (24 cases or 66.7%), the papillary thyroid carcinoma was the most frequent type in 1990-1997 and 1998-2005: 70 (61.4%) and 160 (74.4%) cases respectively. In the context of the national incidence, the authors' institution increasingly contributes to the diagnosis of p.m.t.t. in Slovakia (8.9% in 1996 vs. 13.9% in 2002). However, neither the progress in diagnostic methods nor the capacity expansion for patient examination can explain the increasing incidence of the p.m.t.t. (3.9/10(6) in 1996 vs. 5.6/10(6) in 2002 in women and 1.3/10(6) in 1996 vs. 1.7/10(6) in 2002 in men, respectively). CONCLUSIONS: It remains to be explained why there are significant differences in p.m.t.t. incidence among individual counties. For example, in county Trnava 0.6/10(6) in men in 1996 vs. 1.5/10(6) in 2002; in county Presov 1.2/10(6) in 1996 vs. 2.4/10(6) in 2002. Similarly, in women in county Trnava 3.6/10(6) in 1996 vs. 5.6/10(6) in 2002 and in county Presov 5.4/10(6) in 1996 vs. 8.4/10(6) in 2002. As far as the districts of Slovakia are concerned, data relative to the male population in 2002 indicate zero incidence in 42 out of 79 districts, with the highest incidence (15.9/10(6)) recorded in Svidnik. Likewise, data relative to the female population in 2002 indicate zero incidence in 15 out of 79 districts, with the highest incidence (26.5/10(6)) in Stropkov. These differences call for further (radio)epidemiological, geographical and genetic evaluation.

[Primary aldosteronism in gravidity]. / Primárny aldosteronizmus v gravidite.

Endocrinology and obstetrics have one thing in common--diagnosis and treatment endocrine diseases in gravidity. These are modified by physiological changes in gravidity, often missing data and tests in normal condition and the influence of diagnosis and treatment on the pregnant female and fetus have also to be taken into consideration. If diagnosis of primary aldosteronism is suspected, suprimed plasmatic renin activity is determinant indicator (disregarding arterial hypertension, hypokaliaemia, hyperkaliuresis and proteinuria) as well as ultrasound diagnostics or adrenal gland diagnostics means magnetic resonance imaging. Aldosteron produced adenomas may by treated by adrenalectomy in the second trimester, late diagnosed adenoma and hyperplastic forms are treated by the administration of the respective medicaments.

[Differential diagnosis of peripheral neuropathy]. / Diferenciálna diagnostika periférnych neuropatií.

Neuropathies can be caused by metabolic-endocrine, toxic, and hereditary disorders, various conditions of nutrition deficiency, inflammatory or systemic diseases, vasculopathies, and they can be part of the paraneoplastic symptomatology as well. Diabetes mellitus (DM) is the most common cause of neuropathy in our population. Diabetic polyneuropathy represents the most frequent form of polyneuropathy in well-developed countries, indicates more admissions that other diabetic complications and has important impact on the quality of patients' life. From the differential diagnostic point of view, it is important that signs of the diabetic neuropathy are non-specific and identical for all neuropathies. Each neuropathy represents complex of sensory, motor and vegetative signs. In addition to the clinical features, biochemical and paraclinical investigations are conclusive for identifying the etiology of neuropathy. Suspicion for non-diabetic etiology of neuropathy is increased in neuropathy developed earlier to DM, neuropathy in very good controlled DM, and asymmetric neuropathy. After elucidation of an atypical neuropathy signs, neurological and electromyographical studies should follow. With the development of serological and genetic tests, autoimmune and hereditary neuropathies are increasingly diagnosed in cases of to that time unclassified idiopathic neuropathies. Even after complex investigation procedures, the etiology of polyneuropathy remains unrevealed in approximately 50% of cases.

[From the history of endocrinology: reminiscence of the discovery of adrenocortical hormones]. / Z histórie endokrinológie: reminiscencia okolností objavovania hormónov adrenokortexu.

In the article authors describe the milestones in history of discoveries of the adrenocortical hormones. Preparation of the adrenal extract cortine was the first experimental contribution. Cortine prolonged life of animals whose adrenals have been removed and had beneficial effects in patients with Addison disease (AD). It was mixture of compounds comprising carbon, hydrogen and oxygen that belong to the steroids. From those deoxycorticosterone had impact on mineral metabolism, substances that Kendall termed as compounds A, B, E, and F influenced metabolism of saccharides and proteins. In 1929 Dr. Hench had observed that the painful symptoms of rheumatoid arthritis (RA) were relieved in a patient who developed jaundice and in 1931 he remarked favourable effects of pregnancy to the course of RA. He suggested that some agent (substance X) was present during jaundice and in pregnancy through that the symptoms of RA were relieved. In 1941 interest concerned to the compound A, however, this was almost ineffective in patients with AD. In 1948 compound E was successfully administered to patients with AD and RA for the first time. Concerning the relation between vitamin E Kendall and Hench gave compound E distinctive name cortisone. Consequently it was confirmed that compound F (hydrocortisone) is the final product of the adrenal cortex. Appreciating the work of the most significant groups was awarding the Nobel Prize to Edward Kendall, Tadeusz Reichstein and Philip Hench in 1950.

The effect of 1% povidone iodine as a pre-procedural mouthrinse in 20 patients with varying degrees of oral hygiene.

This study is conducted to determine the different types of microorganisms found in the saliva of individuals with varying degrees of oral hygiene, also to determine the effectiveness of 1% Povidone Iodine (Betadine) 1% gargle oral antiseptic as a pre-procedural mouthrinse in individuals with varying degrees of oral hygiene, and lastly to be able to determine the duration of the effectiveness of the solution. The cheek mucosa of the patients are procured of saliva specimens without prior rinsing of 1% Povidone Iodine and the saliva sample obtained was placed on a test tube with thioglycollate culture media and was labelled. The patients are asked to rinse or to gargle immediately with 1% Povidone Iodine at full strength (20ml.) for about 30 seconds. After two hours, the cheek mucosa was then again swabbed and placed on the second test tube. After four hours, the same procedure was done and the saliva specimen obtained was labelled and placed on the third test tube. The result of this study revealed that 1% Povidone Iodine used as a pre-procedural mouthrinse has a bactericidal effect in the microorganism concentration resulting to the reduction of surviving microorganisms up to four hours which is the limitation of the study.