Clinical features and therapeutic outcomes of patients with acromegaly: single-center experience.

The aim of this study was to review the outcome of acromegaly treatment, as well as co-morbidity and mortality in a series of patients with acromegaly attending a single center in the last 10 yr. In that period, 53 patients were treated for acromegaly. Transsphenoidal operation was applied as the first-line therapy in 94.3% of patients and it led to disease remission in 59.2% of them. The remission criteria included a nadir GH<1 µg/l after glucose load, and normal age-related IGF-I levels. The remission rate after transsphenoidal surgery was significantly higher in the group of patients with microadenoma (76.9%), than in the group of patients with macroadenoma (52.8%). Patients with invasive tumors had remission rate of 16.7% after transsphenoidal surgery. There were no perioperative deaths. As the second-line treatment somatostatin analogues, radiotherapy, and dopaminergic agonists were used. Hypertension and diabetes were the most frequent co-morbidities in the group of patients. After successful treatment, 30% of patients with diabetes or impaired glucose tolerance had significant improvement of glycemic control. Transsphenoidal surgery is the appropriate firstline therapy in patients with somatotropinoma. Medical and radio-therapy should be reserved as the second-line therapy after surgery failure.

Animal model for age- and sex-related genotoxicity of diethylstilbestrol.

Environmental xenoestrogens pose a significant health risk for all living organisms. There is growing evidence concerning the different susceptibility to xenoestrogens of developing and adult organisms, but little is known about their genotoxicity in pre-pubertal mammals. In the present study, we developed an animal model to test the sex- and age-specific genotoxicity of the synthetic estrogen diethylstilbestrol (DES) on the reticulocytes of 3-week-old pre-pubertal and 12-week-old adult BALB/CJ mice using the in vivo micronucleus (MN) assay. DES was administered intraperitoneally at doses of 0.05, 0.5, and 5 microg/kg for 3 days and animals were sampled 48, 72 and 96 h, and 2 weeks after exposure. Five animals were analyzed for each dose, sex, and age group. After the DES dose of 0.05 microg/kg, pre-pubertal mice showed a significant increase in MN frequency (P < 0.001), while adults continued to show reference values (5.3 vs 1.0 MN/1000 reticulocytes). At doses of 0.5 and 5 microg/kg, MN frequency significantly increased in both age groups. In pre-pubertal male animals, MN frequency remained above reference values for 2 weeks after exposure. Our animal model for pre-pubertal genotoxicity assessment using the in vivo MN assay proved to be sensitive enough to distinguish age and sex differences in genome damage caused by DES. This synthetic estrogen was found to be more genotoxic in pre-pubertal mice, males in particular. Our results are relevant for future investigations and the preparation of legislation for drugs and environmentally emitted agents, which should incorporate specific age and gender susceptibility.

Decreased peak bone mass is associated with a 3-bp deletion/insertion of the CYP19 intron 4 polymorphism: preliminary data from the GOOS study.

Finding that estrogen plays an important role in bone homeostasis in men prompted research on relationship of polymorphism at the CYP19 gene and the bone mass. Therefore, influence of 3-bp deletion/insertion polymorphism of CYP19 (TTTA)7 allele on the peak bone mass attainment in males was studied. Fifty-eight unrelated male participants, aged 21-35, were selected depending on the presence of (TTTA)7 (no.=19) or (TTTA)7-3 (no.=39) alleles from the initial cohort of 92 young males. Heterozygotes (TTTA)7/(TTTA)7-3 (no.=13) were not included in the analysis. Serum levels of estradiol, free testosterone, 25-hydroxyvitamin D, bone alkaline phosphatase, osteocalcin, and beta-crosslaps were measured. Bone mass was measured by DXA at the hip and at the spine. (TTTA)7-3 allele was associated with significantly lower femoral neck bone mineral density (BMD) (p=0.02). Logistic regression model indicated strong association of (TTTA)7-3 allele with low BMD in the range of osteopenia/osteoporosis (p=0.014, odds ratio 12.36, confidence intervals 1.65-92.46). In the present study association of 3-bp deletion polymorphism of the (TTTA)7 allele with decreased peak bone mass in males is reported for the first time. However, further studies are necessary to elucidate the functional relevance of this polymorphism.

Discriminatory ability of calcaneal quantitative ultrasound in the assessment of bone status in patients with inflammatory bowel disease.

A high incidence of bone disease in patients with inflammatory bowel disease (IBD) requires frequent monitoring of skeletal status and, for that reason, evaluation of radiation-free technology is an issue of interest. Our objective was to appraise the parameters of calcaneal quantitative ultrasound (QUS): broadband ultrasound attenuation (BUA), speed of sound (SOS) and stiffness index (QUI), and establish their t-score values to investigate discriminatory ability of QUS in IBD patients with metabolic bone disease. The study included 126 patients (Crohn's disease [n = 94] and ulcerative colitis [n = 32]), and 228 age- and sex-matched healthy volunteers. Bone status was evaluated on the same day by calcaneal QUS and dual-energy x-ray absorptiometry (DXA) at spine (L1-L4) and total hip. All QUS measurements were lower in patients compared with healthy controls (BUA p < 0.001; SOS p < 0.001; QUI p < 0.001) and correlated significantly but inversely with disease duration (r = -0.3, p = 0.002). There was no difference with respect to type of disease (Crohn's disease or ulcerative colitis) or corticosteroid therapy. All three QUS t-scores were significantly lower in patients who had previously sustained fragile fractures (n = 28) than in those without fracture in their history (n = 98) (t-scores: BUA -2.0 vs. -1.3, p = 0.008; SOS -2.1 vs. -1.4, p = 0.02: QUI -2.3 vs. -1.5, p = 0.009). Axial DXA was not significantly different between the fracture and nonfracture patients (-1.7 vs. -1.2, p = 0.1), whereas total hip DXA showed a discriminatory power between the two (-1.6 vs. -0.7, p = 0.001). Patients with t-score < -1.0 scanned by DXA were classified as bone disease. The sensitivity of QUS to identify bone disease was 93% and specificity 63%. The sensitivity of QUS to detect osteopenia was 84% and 72% for osteoporosis. Alternatively, lower negative QUS t-score cutoff

Calcaneus ultrasound in males: normative data in the Croatian population (ECUM study).

Limited number of dual X-ray absorptiometry (DXA) devices in Croatia makes this diagnostic technique unavailable to the majority of the population. Quantitative ultrasound (QUS) of the calcaneus could be an alternative tool for assessing fracture risk. However, age-specific normative data should be obtained before using the QUS in everyday clinical practice. The aim of our Epidemiology of Calcaneus Ultrasound in Males (ECUM) study is to establish the normative QUS data in a healthy sample of Croatian males. A total of 1002 male participants, aged 20-99, recruited in different Croatian counties, were included in the study. In each subject broadband ultrasound attenuation (BUA), speed of sound (SOS) and quantitative ultrasound index (QUI) of the left calcaneus were measured using the Sahara ultrasound device (Hologic). The coefficients of variation were 2.85 for BUA, 0.37 for SOS and 2.49 for QUI. Significant declining with age was found for all three parameters, BUA (p<0.001), SOS (p<0.001) and QUI (p<0.001), with respective r values 0.14, 0.27 and 0.23. The peak SOS (1,562.8+/-28.5 m/sec) and QUI (103.6+/-16.5) values were observed in the third decade, whereas the peak BUA value (86.2+/-19.2 db/MHz) was observed in the fourth decade. A subgroup of 103 participants, aged 20-29, was used to estimate young adult mean and SD for QUI and calculate the T-scores. Using the World Health Organization diagnostic criteria the rates of osteoporosis (T-score<-2.5) in the males aged 50 and older was 5.8%. However, when we used the cut-off value of the T-score<-1.8, as previously suggested, prevalence of osteoporosis in Croatian males >50 yr was 16.2%. Although further studies might improve our understanding of the QUS role in the fracture prediction, we hope that the results presented here will improve the clinical management of osteoporosis in males.

A systematic review of brain injury epidemiology in Europe.

BACKGROUND: The world's literature on traumatic brain injury (TBI) grows annually including new reports on epidemiologic findings from many regions. With the wide variety of reports emphasizing various factors it is useful to compile these findings, hence the objective of this report. Thus, we describe epidemiological factors from European studies largely published in the last 20 years. METHOD: The Medline was searched for TBI related articles from about 1980 to 2003 including terms such as "epidemiology", "head injury", "brain injury" and others. From the research reports identified, we checked references for additional relevant reports and from those reports we abstracted data on TBI incidence, severity, external cause, gender, mortality, prevalence, cost and related factors. RESULTS: Twenty three European reports met inclusion criteria and included findings from national studies from Denmark, Sweden, Finland, Portugal, Germany, and from regions within Norway, Sweden, Italy, Switzerland, Spain, Denmark, Ireland, the U.K. and France. An aggregate hospitalized plus fatal TBI incidence rate of about 235 per 100,000 was derived. Prevalence rate data were not reported from any European country. An average mortality rate of about 15 per 100,000 and case fatality rate of about 11 per 100 were derived. The TBI severity ratio of hospitalized patients was about 22:1.5:1 for mild vs. moderate vs. severe cases, respectively. The percentages of TBI from external causes varied considerably and several reports reported an association of alcohol use with TBI. Outcome or disability findings were mixed and inconsistent. INTERPRETATION: It was difficult to reach a consensus on all epidemiological findings across the 23 published European studies because of critical differences in methods employed across the reports. We highly recommend the development of research guidelines to standardize definitional, case finding, and data reporting parameters to help establish a more precise description and hence utility of the epidemiology of TBI in Europe.

Diagnostic value of thyrotropin releasing hormone test in 129 patients with suspected tumoral hyperprolactinemia.

In 129 hyperprolactinemic (PRL > or = 100 ng/mL) and 100 normoprolactinemic patients (PRL 0-25 ng/mL), delta max. PRL (the difference between maximal prolactin (PRL) after thyrotropin releasing hormone (TRH) injection and basal value) was compared with basal PRL and computed tomography (CT) of the sellar region. In 122 hyperprolactinemic patients delta max. PRL was < 100%, while tumor was found in 106 of them. In the remainder seven hyperprolactinemic patients delta max. PRL was > or = 100% and CT showed no tumor. A significant difference in delta max. PRL between hyperprolactinemic patients without and those with verified adenoma was found and showed a significant negative correlation with basal PRL. Between 122 hyperprolactinemic patients with delta max. PRL < 100%, mean basal PRL and duration of clinical symptoms were significantly lower in 16 patients with normal CT compared to 106 patients with tumor. All normoprolactinemic patients showed delta max. PRL > or = 100% and no tumor on CT. PRL stimulation disturbance precedes tumor visualization and represents a decisive diagnostic parameter in hyperprolactinemic patients with no tumor signs.

[Importance of the CRH (corticotropin releasing hormone) test in the differential diagnosis of Cushing's syndrome]. / Vrijednost CRH-testa u diferencijalnoj dijagnozi Cushingova sindroma.

In the group of 13 patients with Cushing's syndrome (CS) CRH test was performed by sampling the blood from peripheral vein and in eight patients also after inferior petrosal sinus catheterization (IPSC) to resolve the disease etiology. In the group of patients with Cushing's disease (CD, n = 11), which was proven by surgery and adenoma immunohistochemistry, 10/11 had in CRH test the significant increase of cortisol and ACTH in the peripheral blood. Among two patients with ectopic ACTH syndrome one had the significant increase of both hormones in CRH test. After IPSC the ratio of ACTH in the petrosal sinus and in the peripheral vein was significant in 4/8 patients before, and in 6/8 after CRH administration. The intersinus gradient was significant in 3/8 patients before, and in 4/8 after CRH test. According to our results we can conclude that the determination of ACTH in the blood from peripheral veins after CRH administration is a very sensitive method for differential diagnosis of CS, while the results after IPSC were less sensitive in our conditions than those described in the literature.

Genotyping of CYP2D6 in Parkinson's disease.

Parkinson's disease is characterized by progressive degradation of dopaminergic neurons. Cytochrome P450 CYP2D6 enzyme is one of the most investigated and highly polymorphic isoforms, which metabolizes many drugs and is also involved in the metabolism of dopamine. Using allele-specific multiplex PCR, we genotyped 186 subjects for CYP2D6 *3, *4, *6, *7, and *8 alleles in order to estimate allelic, genotype and predicted phenotype frequencies in the control and patient groups, and to investigate the possible statistical difference between Parkinson's disease patients (n=41) and healthy controls (n=145). Parkinson's disease patients were further divided into two subgroups according to Hoehn and Yahr staging of the disease (HY), i.e. groups with HY stage less than 2.5 (HY <2.5; n=27) and more than 2.5 (HY >2.5; n=14). A subgroup of Parkinson's disease patients exhibiting side effects such as "on-off" phenomenon and dyskinesia (both suggesting favorable response to therapy) were compared with a subgroup of patients showing no such response. The preliminary results of this study showed that only the prevalence of CYP2D6 *4 allele differed significantly between the PD patients and control group (20.7% vs. 11.0%; p=0.027; RR=2.1, 95%CI 1.113-3.994). In the HY >2.5 subgroup, the CYP2D6*4 allelic difference was even greater (25.0% vs. 11.0% in controls; p=0.062, RR=2.69, 95%CI 1.090-6.624). Genotype frequencies differed only in the HY >2.5 subgroup, however with a level of significance of p=0.095.

Evolution of clinical symptoms in a young woman with a recurrent gonadotroph adenoma causing ovarian hyperstimulation.

OBJECTIVE: To demonstrate the clinical course in a young female with gonadotroph adenoma causing ovarian stimulation. PATIENT AND METHODS: Our patient was a 23-year-old woman with a history of oligomenorrhea who had previously undergone bilateral ovarian wedge resection owing to the clinical appearance of polycystic ovaries. Two years later, she sought treatment for headache, galactorrhea, history of spotting and lower abdominal distension. FSH, LH, beta-LH, inhibin A and B, estradiol, prolactin (PRL), and beta-chorionic gonadotrophin (beta-CG) were measured, and the responses of FSH, LH and beta-LH to thyrotrophin-releasing hormone (TRH) were documented. Immunohistochemical analysis of the tumor tissue was performed after surgery. Five years after the trans-sphenoidal surgery, the patient again became oligomenorrheic. A large recurrent adenoma was diagnosed on CT one year later. Transvaginal ultrasound showed ovaries of normal size with multiple small cystic formations simulating a polycystic pattern, While the patient was awaiting surgery, a pituitary apoplexy occurred. Emergency decompressive surgery was performed and the patient fully recovered. RESULTS: Enlarged ovaries were found on ultrasound examination simulating a hyperstimulation-like pattern. At that time, elevated levels of FSH (13.4IU/l) and marginally elevated levels of beta-LH (1.43ng/ml) were found, whereas the level of LH (0.5IU/l) was subnormal. Plasma estradiol was markedly supranormal (6150pmol/l). Levels of inhibin A and B were elevated (326pg/ml and 588pg/ml respectively). The prolactin level (70ng/ml) was increased, whereas beta-chorionic gonadotrophin (beta-CG) was normal. Significantly increased FSH, LH, and beta-LH responses to TRH stimulation were documented. Pituitary macroadenoma was found on MRI scan and removed by trans-sphenoidal surgery. Immunohistochemical examination showed high positivity for beta-CG and LH, and slight positivity for FSH. Five years after the surgery, estradiol was elevated (1160pmol/l), whereas basal levels of LH (4.65IU/l) and FSH (3.98IU/l) were not suppressed. After the second operation, immunostaining of the adenoma tissue confirmed the previous findings. CONCLUSIONS: Measurement of gonadotrophins in our case did not prove to be a method for identifying a large recurrent gonadotroph pituitary adenoma. The sonographic ovarian imaging varied from a polycystic- to an ovarian hyperstimulation-like pattern during the evolution of the tumour.

Vertebral osteophytosis and vertebral deformities in an elderly population sample.

AIM OF THE STUDY: We investigated the association between vertebral osteophytosis and vertebral deformities in an elderly population sample, and the influence of some risk factors on spinal osteophytosis and deformities. SUBJECTS AND METHODS: A population sample of 280 women and 263 men, all Zagreb residents older than 45 years, participated in the study. Radiographs of the thoracic and lumbar spine were evaluated for the presence of osteophyte formation and vertebral deformities. Osteophyte size was graded on a scale from 0 to 4. Vertebral deformities were determined by the semiquantitative method of McCloskey. The chi-square test was used to analyse the association between vertebral osteophytes and deformities, and the influence of several risk factors was investigated by discriminate analysis. RESULTS: The prevalence of vertebral osteophytosis was 47.9% in men (36.5% in the thoracic and 21.3% in the lumbar spine) and 56.0% in women (36.0% in the thoracic and 23.9% in the lumbar spine). The prevalence of vertebral deformities was 8.3% in men (5.3% in the thoracic and 3.4% in the lumbar spine) and 12.5% in women (7.9% in the thoracic and 5.4% in the lumbar segment). There was a significant association between deformities and osteophytosis on the lumbar segment of the spine (P = 0.0240 men, P = 0.0152 women). Analysing the influence of several risk factors, age was found to be the most associated with both vertebral deformities and osteophytosis. Obesity was significantly associated with osteophytosis. CONCLUSIONS: We found a significant association between vertebral osteophytosis and deformities in the lumbar segment and no relationship in the thoracic segment. This implicates different etiologies of vertebral deformities in the thoracic and lumbar spine.

[Low-renin hypertension and inherited mineralocorticoid diseases]. / Niskoreninska hipertenzija i nasljedne bolesti mineralokortikoida.

Liddle's syndrome, apparent mineralocorticoid excess (AME) and glucocorticoid remediable aldosteronism (GRA) are inherited diseases characterized by hypertension and low plasma renin activity. Constitutive activation of distal renal epithelial sodium channel (Liddle's syndrome), defect in 11 beta-hydroxysteroid dehydrogenase activity (AME) and unequal crossing over, fusing regulatory sequences of 11 beta-hydroxylase gene to coding sequences of aldosterone synthase gene and forming a new chimeric gene (GRA), cause apparent or real mineralocorticoid excess. This diseases are often being unrecognized and classified as essential hypertension, especially in patients with normal serum potassium level. Family history of hypertension and characteristic serum and urine++ steroid profile direct us to diagnosis, and genetic analysis will confirm it.

[The diabetic foot. The Croatian model--national consensus (clinical recommendations for diagnosis, prevention and therapy)]. / Dijabeticko stopalo. Hrvatski model--nacionalno usuglaseno misljenje (klinicke preporuke za dijagnostiku, prevenciju i lijecenje).

Diabetic foot occurs due to the loss of protective sense and circulation disorder and a marked proneness to infections. Mechanical stress of bone growths frequently leads to ulcerations. The prevention and timely treatment of diabetic foot requires the participation of both patients and all health care levels. This consensus is given for the purpose of procedure standardization. Education is the basis of prevention and should be carried out with every patient suffering from diabetes mellitus and those with a sensory defect in particular. Appropriate footwear significantly contributes to prevention and treatment of ulcers. As regards the treatment, the necessity of surgical approach with a long term and often manifold antibiotic therapy should be pointed out. Infections are usually mixed. The deeper the ulceration, the more likely the infection with anaerobes and Gram-negative bacteria occurs in addition to Gram-positive ones which are normally present in surface lesions. Strict metabolic control is a precondition for successful treatment. In conclusion, diabetic foot is a major health problem which requires multidisciplinary approach with permanent patient education as its essential part, and a specific cooperation of all levels and different health care specialties.

Clinical and morphological features of undifferentiated monomorphous GH/TSH-secreting pituitary adenoma.

A 41-year-old male presented with progressive visual defects, acromegaly and hyperthyroidism. After clinical evaluation a giant GH/TSH-secreting pituitary adenoma was diagnosed. Administration of the somatostatin analog octreotide at doses of 150 microg s.c. per day inhibited the secretion of both GH and TSH. A three-week treatment with octreotide prior to surgery led to slight visual improvement and CT scan showed some new necrotic areas within the tumor mass. Transcranial surgery was performed. By immunohistochemical analyses of the adenoma tissue GH, prolactin and beta-chorionic gonadotropin were detected; TSH was negative. Electron microscopy revealed an undifferentiated, monomorphous adenoma with morphological features of an acidophil stem cell adenoma such as the presence of misplaced exocytoses, fibrous bodies and mitochondrial gigantism. However, the tumor cells contained small secretory granules (up to 250 nm) accumulated along the cell membrane characteristic of thyrotrope cells. Furthermore, some adenoma cells were fusiform with long cytoplasmic processes resembling thyrotropes. Two months after the operation CT scan revealed a large residual tumor. Serum GH and TSH levels had increased again and the TSH level was even higher than before the treatment. The patient died suddenly, most probably of lethal arrhythmia. Specimens of the adenoma tissue obtained at autopsy confirmed the previous findings with the exception of positive immunostaining for TSH which was found in less than 1% of the adenoma cells. This undifferentiated, monomorphous GH/TSH-secreting pituitary adenoma represents an entity that is unusual both in its ultrastructural features and clinical manifestations suggesting a cytogenesis from an early, undifferentiated stem cell.

Effects of combined treatment with etidronate, nandrolone-decanoate and calcium on bone mineral density in postmenopausal women.

The objective of this retrospective study was to see whether the effect on bone mineral density (BMD) and response to the intermittent cyclic treatment with etidronate (E) + nandrolone-decanoate (ND + calcium (Ca) (group A--combined regimen--400 mg E daily for 2 weeks, followed by 500 mg Ca daily for the next 10 weeks + 50 mg ND once a month i.m., for 3 months in every other E cycle) was of greater benefit than cyclic E + Ca treatment (group B--standard regimen--E + Ca given in the same manner as in group A) or Ca treatment alone (group C--calcium regimen--500 mg Ca daily, continuously for 1 year). Group A comprised 30, group B 27 and group C 26 postmenopausal women with spinal BMD > or = 1 standard deviation below young adult mean (T score < or = -1) without vertebral fractures. BMD was measured by dual energy X-ray absorptiometry in the lumbar spine and femoral neck before (baseline values) and after one year treatment period. A similar, statistically significant increase in BMD was noted at lumbar spine in groups A and B (3.6% and 3.8%, respectively) and at femoral neck in groups A and B (1.7% and 2.5%, respectively). In group C, the bone loss at lumbar spine was prevented but no significant increase was recorded (0.3%) and at femoral neck an insignificant decrease in BMD was recorded (-0.3%). Percentages of change from baseline were significantly higher in groups A and B in respect to those in group C but there were no significant differences between groups A and B either at lumbar spine or at femoral neck. In about 30% of women from groups A and B, spinal BMD increased by more than 4.2% ("real" responders to the given therapy). A femoral BMD increase of more than 5.6% was recorded in about 13% of women from groups A and B. In group C, no such increase was recorded. In conclusion, combined intermittent cyclical regimen of E + ND + Ca has not proven to be superior to the intermittent cyclic regimen of E + Ca.

Massive osteolysis in a girl with agenesis of thyroid C cells.

A rare case of massive osteolysis affecting the pelvis of a young girl is presented. The clinical, radiographic, and histopathological features are described in detail. Septicemia complicated the clinical course and the patient eventually died. Histopathological examination of the pelvic lesion revealed massive osteolysis characterized by prominent osteoclastic activity with extensive bone resorption. A thorough post-mortem histological examination of the thyroid gland showed no C cells. This is an interesting observation, since it is known that thyroid C cells are the primary source of calcitonin. Since the main biological effect of calcitonin is to inhibit osteoclastic bone resorption, there is a possibility that massive osteolysis in our case could have been related to the lack of this hormone. There is a clear need for further investigation regarding the role of thyroid C cells and calcitonin in this puzzling disease.

[Bone mineral density in patients on long-term therapy with levothyroxine]. / Mineralna gustoca kosti u bolesnica na dugotrajnoj terapiji levotiroksinom.

The aim of the study was to determine the influence of replacement and suppressive thyroxine therapy on bone mineral density (BMD). 30 postmenopausal women; 19 on replacement therapy (dose 1.22 +/- 0.35 micrograms/kg; duration 11.4 +/- 7.2 years) and 11 on suppressive therapy (dose 1.45 +/- 0.71 micrograms/kg; duration 9.5 +/- 7.2 years). Controls were 60 healthy women matched for age and menopausal status. BMD at the lumbar spine (L2-L4), femoral neck, Ward's triangle and trochanter was measured by dual-energy absorptiometry. Forearm BMD at distal site was measured by single-photon absorptiometry. Mean thyroid hormone values and TSH were within normal limits, although the patients on suppressive therapy had significantly higher T3 (p < 0.05) than the patients on replacement therapy. BMD on each site was significantly lower in the replacement treated group than in controls. BMD in patients on suppressive therapy was lower, but not significantly, compared to controls. Thyroxine therapy could have an adverse effect on BMD. The magnitude of bone loss depends on the serum level of thyroid hormones and on the functional state of thyroid hormone receptor in bone tissue, as well.

[Turner's syndrome--case report of a female patient with chromosome mosaicism]. / Turnerov sindrom--prikaz bolesnice s kromosomskim mozaicizmom.

A 45-year old woman with the typical Turner's phenotype (short stature, short and broad neck, shield chest and low hairline) and signs of ovarian failure started at the age of 37 with menopause at the age of 44, is presented. The cytogenetic analysis showed the presence of three different cell lines with 45,X, 46,XX and 47,XXX karyotypes. It is a rare type of mosaicism, combining Turner's and triple-X syndrome. Interestingly, the became pregnant and gave birth to a healthy child. Second pregnancy resulted in a miscarriage in the first trimester.