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1.
Calcif Tissue Int ; 2020 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-32748007

RESUMO

We hypothesized that subjects with hyperostosis frontalis interna (HFI), which represents local, endocranial thickening of the frontal bone, would express extra-calvarial manifestations of this condition. Therefore, we compared femoral bone mineral density, geometry, and microarchitecture of males and females with HFI to those without this condition as well as between males and females with HFI. The sample was taken from human donor cadavers, 38 males (19 with and 19 without HFI) and 34 females (17 with and 17 without HFI) that were age-matched within the same sex. The specimens of femoral bones were scanned using microcomputed tomography and dual-energy X-ray absorptiometry (DXA). Parameters of hip structure analysis (HSA) were calculated from data derived from DXA scans. Females with HFI had increased cortical bone volume fraction and their cortical bone was less porous compared to females without HFI. Males with HFI showed microarchitectural differences only with the trabecular bone. They had increased bone volume fraction and decreased trabecular separation compared to males without HFI, although with borderline significance. These microarchitectural changes did not have significant impact on femoral geometry and bone mineral density. The same, still unknown etiological factor behind HFI might be inducing changes at the level of bone microarchitecture at a remote skeletal site (femoral bone), in both sexes. These alterations still do not have the magnitude to induce obvious, straightforward overall increase of bone mineral density measured by DXA. HFI could be a systemic phenomenon that affects both males and females in a similar manner.

2.
Curr Pharm Des ; 2020 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-32787757

RESUMO

A growing number of patients with adrenal incidentalomas and subclinical Cushing's syndrome (SCS) led to a growing number of different guidelines, diagnostic and treatment recommendations. Excess cortisol secretion in patients with SCS is associated with a number of comorbidities, such as hypertension, dyslipidemia, type 2 diabetes mellitus and obesity, which in long-term increase mortality of these patients. Subtle cortisol secretion effects also bone health, quality of life and cause depression, but due to the unapparent clinical features, patients with SCS are often in risk between over and under treatment. The aim of this narrative review was to summarize the latest recommendations on the approach to the patient with subclinical Cushing's syndrome.

3.
Lancet Diabetes Endocrinol ; 8(9): 773-781, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32711725

RESUMO

BACKGROUND: Cross-sectional imaging regularly results in incidental discovery of adrenal tumours, requiring exclusion of adrenocortical carcinoma (ACC). However, differentiation is hampered by poor specificity of imaging characteristics. We aimed to validate a urine steroid metabolomics approach, using steroid profiling as the diagnostic basis for ACC. METHODS: We did a prospective multicentre study in adult participants (age ≥18 years) with newly diagnosed adrenal masses. We assessed the accuracy of diagnostic imaging strategies based on maximum tumour diameter (≥4 cm vs <4 cm), imaging characteristics (positive vs negative), and urine steroid metabolomics (low, medium, or high risk of ACC), separately and in combination, using a reference standard of histopathology and follow-up investigations. With respect to imaging characteristics, we also assessed the diagnostic utility of increasing the unenhanced CT tumour attenuation threshold from the recommended 10 Hounsfield units (HU) to 20 HU. FINDINGS: Of 2169 participants recruited between Jan 17, 2011, and July 15, 2016, we included 2017 from 14 specialist centres in 11 countries in the final analysis. 98 (4·9%) had histopathologically or clinically and biochemically confirmed ACC. Tumours with diameters of 4 cm or larger were identified in 488 participants (24·2%), including 96 of the 98 with ACC (positive predictive value [PPV] 19·7%, 95% CI 16·2-23·5). For imaging characteristics, increasing the unenhanced CT tumour attenuation threshold to 20 HU from the recommended 10 HU increased specificity for ACC (80·0% [95% CI 77·9-82·0] vs 64·0% [61·4-66.4]) while maintaining sensitivity (99·0% [94·4-100·0] vs 100·0% [96·3-100·0]; PPV 19·7%, 16·3-23·5). A urine steroid metabolomics result indicating high risk of ACC had a PPV of 34·6% (95% CI 28·6-41·0). When the three tests were combined, in the order of tumour diameter, positive imaging characteristics, and urine steroid metabolomics, 106 (5·3%) participants had the result maximum tumour diameter of 4 cm or larger, positive imaging characteristics (with the 20 HU cutoff), and urine steroid metabolomics indicating high risk of ACC, for which the PPV was 76·4% (95% CI 67·2-84·1). 70 (3·5%) were classified as being at moderate risk of ACC and 1841 (91·3%) at low risk (negative predictive value 99·7%, 99·4-100·0). INTERPRETATION: An unenhanced CT tumour attenuation cutoff of 20 HU should replace that of 10 HU for exclusion of ACC. A triple test strategy of tumour diameter, imaging characteristics, and urine steroid metabolomics improves detection of ACC, which could shorten time to surgery for patients with ACC and help to avoid unnecessary surgery in patients with benign tumours. FUNDING: European Commission, UK Medical Research Council, Wellcome Trust, and UK National Institute for Health Research, US National Institutes of Health, the Claire Khan Trust Fund at University Hospitals Birmingham Charities, and the Mayo Clinic Foundation for Medical Education and Research.


Assuntos
Neoplasias das Glândulas Suprarrenais/epidemiologia , Neoplasias das Glândulas Suprarrenais/urina , Metabolômica/métodos , Esteroides/urina , Neoplasias das Glândulas Suprarrenais/diagnóstico , Adulto , Idoso , Diagnóstico Diferencial , Europa (Continente)/epidemiologia , Feminino , Seguimentos , Humanos , Achados Incidentais , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
4.
Gynecol Endocrinol ; 36(8): 709-713, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32436442

RESUMO

Aim: to test effects of estradiol (E2) 1 mg and drospirenone (DRSP) 2 mg in treatment of normal weight menopausal women with typical menopausal symptoms, hyperinsulinism, and grade I hypertension.Material and methods: The participants were 133 menopausal women, mean age 51.82 ± 3.25 years, body mass index (BMI) 24.9 ± 2.6 kg/m2, waist/hip 0.80 ± 0.05, amenorrhoeic period 2.12 ± 2.10 years. All patients were treated with E2 1 mg and DRSP 2 mg during 12 months period. Blood samples were taken at 8 am before and during 12 months of therapy for: glycemia, lipids, hormonal analysis, follicle-stimulating hormone (FSH), luteinizing hormone (LH), E2, testosterone (T), prolactin (PRL), dehydroepiandrosterone sulfate (DHEAS), and sex hormone-binding globulin (SHBG). Oral glucose tolerance test (OGTT) was performed with 75 g glucose in order to assess insulin secretion. All had grade I hypertension 24 h blood pressure monitoring was performed before and after 12 months of therapy.Results: E2/DRSP significantly decreased total cholesterol, low-density lipoprotein (LDL), apolipoprotein B (ApoB), and increased high-density lipoprotein cholesterol (HDL) and apolipoprotein A (ApoA). Insulin area under the curve (AUC) significantly decreased (6586.1 ± 4194.2 vs. 5315.3 ± 2895.0, p < .05) and homeostatic model assessment (HOMA) (3.53 ± 2.18 vs. 3.0 ± 1.8, p < .05). FSH, LH decreased, E2 increased significantly. Of 24 h day blood pressure decreased significantly.Conclusions: E2/DRSP represents suitable therapy for hyperinsulinemic, grade I hypertensive menopausal women with typical symptoms and normal weight.

5.
Gynecol Endocrinol ; 34(12): 1011-1015, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30044147

RESUMO

More empathized approach is required and is obligatory to women with premature ovarian insufficiency (POI) interested for pregnancy. In order to improve fertility rate in POI patients our suggestions would be: (1) To decrease FSH value to 10-15 IU/L by increasing estrogen. Oocyte donation can be suggested after a minimum of six month interval from FSH between 10-15 IU/L and when no dominant follicles are found. (2) To perform oral glucose tolerance test (OGTT). Insulin sensitizing agents has to be included, when indicated, 3-6 month before pregnancy. (3) TSH has to be 1-2.5 mM/L during 3-6 months before pregnancy. (4) Tests for thrombophyllia (Leiden V, FII, MTHFR, PAI) have to be obligatory. They are less expensive than those repeated in vitro fertilizations. Therapy has to be included according to the indications. (5) In order to regulate disturbed immune response in POI patients with endometriosis oral contraceptive therapy is needed for atleast six months prior to the pregnancy. (5) Encourage the patients and advice them about healthy life style and eating habits. (6) Add other drugs, when they are indicated. Complex interplay between endocrine, immunological, haematological, and psychological factors are very often underdetected in POI patients. It is very important to find out the real time for oocyte donation after correcting all the disturbances, improving endometrium receptivity and reaching women's acceptable psychological status. Untreated disturbances induce cardiovascular diseases, diabetes mellitus, thyroid diseases, coagulopathioes etc.


Assuntos
Endométrio/fisiopatologia , Estradiol/uso terapêutico , Infertilidade Feminina/etiologia , Insuficiência Ovariana Primária/complicações , Endometriose/complicações , Estradiol/deficiência , Feminino , Humanos , Resistência à Insulina , Doação de Oócitos , Insuficiência Ovariana Primária/tratamento farmacológico , Insuficiência Ovariana Primária/imunologia , Insuficiência Ovariana Primária/fisiopatologia , Trombofilia/complicações
6.
Acta Clin Croat ; 57(4): 756-761, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31168213

RESUMO

- The aim of the study was to assess the role of the estradiol and progesterone relationship during the late luteal phase and the occurrence of fibrocystic breast disease (FBD). The concentration of estradiol/progesterone was measured in the group of women with FBD as study group (n=50) and control group of women without FBD (n=40). All women had regular ovulation cycles. Blood samples for estradiol (E2), progesterone (P) and prolactin determination were obtained in the morning at 8 am on days 21 and 24 of menstrual cycle. Significant mastalgia and mastodynia history in women with FBD was obtained with yes or no questionnaire. FBD diagnosis was confirmed with ultrasound (size and number of simple cysts). In the control group, a reduced E2/P ratio was noticed from day 21 to day 24 of the cycle (from 14.8±11.5 pg/mL to 9.1±6.1 pg/mL; p<0.05), which was not recorded in the group of women with FBD (study group). Even the slightest disturbance of the E2/P ratio may contribute to the occurrence of FBD with clinical manifestations of mastalgia and mastodynia.


Assuntos
Estradiol/sangue , Doença da Mama Fibrocística , Progesterona/sangue , Prolactina/sangue , Adulto , Correlação de Dados , Feminino , Doença da Mama Fibrocística/sangue , Doença da Mama Fibrocística/diagnóstico , Doença da Mama Fibrocística/fisiopatologia , Humanos , Fase Luteal/sangue , Mastodinia/sangue , Mastodinia/diagnóstico , Mastodinia/etiologia , Medição da Dor/métodos , Ultrassonografia Mamária/métodos
7.
Clin Endocrinol (Oxf) ; 88(4): 541-548, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29288564

RESUMO

OBJECTIVE: A high prevalence of insulin resistance (IR) has proven to manifest in patients with adrenal incidentalomas (AI). It has been demonstrated that an increase in IR is related to the size of tumourous masses; additionally, luteinizing hormone (LH)-dependent adrenal pathologies are well documented in patients with LH-responsive adrenal tumours occurring under conditions of physiologically elevated LH. We hypothesized that an association between LH and insulin might play a role in adrenal tumourigenesis and steroidogenesis. DESIGN: The aim of our study was to investigate the association between LH and IR; adrenal tumour size (ATS) and IR; LH and cortisol after the 1 mg overnight dexamethasone test (1 mg DST); and ATS and 1 mg DST cortisol in AI patients. This was a case-control study conducted in the Clinic for Endocrinology, Diabetes and Metabolic Diseases in Belgrade, Serbia. The total study group consisted of 105 menopausal women: 75 AI patients [27 with nonfunctional AI (NAI) and 48 with (possible) autonomous cortisol secretion ((P)ACS)] and 30 age-, BMI-, LH- and menopause duration-matched healthy control (HC) women. To estimate IR, we used homeostasis model assessment (HOMA-IR). RESULTS: Luteinizing hormone and ATS are in a significant positive correlation with HOMA-IR and 1 mg DST cortisol in menopausal patients with AI and (P)ACS. CONCLUSIONS: Our data point to a possible cause-effect relationship between LH and insulin in patients with AI and (P)ACS adding to the body of evidence of their involvement in adrenal tumourigenesis and steroidogenesis.


Assuntos
Neoplasias das Glândulas Suprarrenais/sangue , Resistência à Insulina , Hormônio Luteinizante/sangue , Pós-Menopausa/sangue , Idoso , Estudos de Casos e Controles , Dexametasona , Feminino , Humanos , Hidrocortisona/sangue , Pessoa de Meia-Idade
8.
Gynecol Endocrinol ; 32(9): 762-766, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27871199

RESUMO

OBJECTIVE: To assess influence of obesity and hormone disturbances on sexuality in the menopause. METHODS: The study included 73 menopausal women, who were divided into groups according to body mass index (BMI) ≥ 26.7 kg/m2. Anthropometric characteristics and blood pressure were measured. Blood was taken at 08:00 for hormones. All the participants filled in McCoy Female Sexual Questionnaire for the assessment of sexual life. STATISTICS: Student's t-test, correlation, analysis of variance (ANOVA). RESULTS: Follicle-stimulating hormone (FSH), luteinizing hormone (LH) and sex hormone-binding globulin (SHBG) were very significantly lower in obese compared to controls. E2 and systolic blood pressure were very significantly, while diastolic blood pressure significantly higher in obese compared to controls. Obese women had significantly decreased frequency of pain during sexual intercourse (3.48 ± 2.64 vs. 4.09 ± 2.81). Influence of age on frequency of sexual intercourse was very significant. Significant influence in interaction between BMI and age on frequency of sexual fantasies as well as significant influence of BMI on satisfaction with partner as lover is also found. CONCLUSION: Obesity has influence on different aspects of sexuality in the postmenopausal women. Our results suggest the need of awareness toward obesity and its impact on sexuality in the menopause.


Assuntos
Índice de Massa Corporal , Hormônio Foliculoestimulante/sangue , Hormônio Luteinizante/sangue , Menopausa/fisiologia , Obesidade , Globulina de Ligação a Hormônio Sexual/metabolismo , Comportamento Sexual/fisiologia , Coito/fisiologia , Feminino , Humanos , Menopausa/sangue , Pessoa de Meia-Idade , Obesidade/sangue , Obesidade/fisiopatologia
9.
Women Health ; 56(8): 994-1007, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27093135

RESUMO

To improve our understanding of hyperostosis frontalis interna (HFI), we investigated whether HFI was accompanied by changes in the postcranial skeleton. Based on head CT scan analyses, 103 postmenopausal women were divided into controls without HFI and those with HFI, in whom we measured the thickness of frontal, occipital, and parietal bones. Women in the study underwent dual energy x-ray absorptiometry to analyze the bone density of the hip and vertebral region and external geometry of the proximal femora. Additionally, all of the women completed a questionnaire about symptoms and conditions that could be related to HFI. Women with HFI had a significantly higher prevalence of headaches, neurological and psychiatric disorders, and a significantly lower prevalence of having given birth. Increased bone thickness and altered bone structure in women with HFI was localized only on the skull, particularly on the frontal bone, probably due to specific properties of its underlying dura. Bone loss in the postcranial skeleton showed the same pattern in postmenopausal women with HFI as in those without HFI. Recording of HFI in medical records can be helpful in distinguishing whether reported disorders occur as a consequence of HFI or are related to other diseases, but does not appear helpful in identifying women at risk of bone loss.


Assuntos
Osso Frontal/diagnóstico por imagem , Hiperostose Frontal Interna/diagnóstico por imagem , Pós-Menopausa , Absorciometria de Fóton , Idoso , Estudos de Casos e Controles , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X
10.
Acta Clin Croat ; 55(4): 629-635, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-29117655

RESUMO

Primary premature ovarian insufficiency (PPOI) is characterized by hypergonadotropic amenorrhea and hypoestrogenism in women under 40 years of age. PPOI incidence is 1:10,000 in women aged 18-25, 1:1000 in women aged 25-30 and 1:100 in women aged 35-40. In 10%-28% of cases, PPOI causes primary and in 4%-18% secondary amenorrhea. The process is a consequence of accelerated oocyte atresia, diminished number of germinated cells, and central nervous system aging. Specific genes are responsible for the control of oocyte number undergoing the ovulation process and the time to cessation of the reproductive function. A positive family history of PPOI is found in 15% of women with PPOI, indicating the existing genetic etiology. Primary POI comprises genetic aberrations linked to chromosome X (monosomy, trisomy, translocation, deletion) or to autosomal chromosome. Secondary POI implies surgical removal of ovaries, chemotherapy and radiotherapy, and infections. Diagnostic criteria include follicle stimulating hormone level >40 IU/L and estradiol level <50 pmol/L.


Assuntos
Insuficiência Ovariana Primária/genética , Adolescente , Adulto , Feminino , Humanos , Insuficiência Ovariana Primária/etiologia , Adulto Jovem
11.
Arch Iran Med ; 18(7): 450-2, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26161711

RESUMO

Paraneoplastic syndrome might be the first clinical manifestation of malignancy. We present a menopausal female with the acquired hypertrichosis lanuginosa (AHL) as an initial clinical presentation of rectal adenocarcinoma, unusually associated with paraneoplastic cerebellar degeneration (PCD) and disseminated intravascular coagulation (DIC).


Assuntos
Adenocarcinoma/patologia , Hipertricose/etiologia , Neoplasias Retais/patologia , Adenocarcinoma/complicações , Coagulação Intravascular Disseminada , Feminino , Humanos , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Degeneração Paraneoplásica Cerebelar , Neoplasias Retais/complicações
12.
Srp Arh Celok Lek ; 143(3-4): 214-8, 2015.
Artigo em Sérvio | MEDLINE | ID: mdl-26012135

RESUMO

SUMMARY INTRODUCTION: Androgen insensitivity syndrome (AIS) belongs to disorders of sex development, resulting from complete or partial resistance to the biological actions of androgens in persons who are genetically males (XY) with normally developed testes and age-appropriate for males of serum testosterone concentration. CASE OUTLINE: A 21-year-old female patient was admitted at our Clinic further evaluation and treatment of testicular feminization syndrome, which was diagnosed at the age of 16 years.The patient had never menstruated. On physical examination, her external genitalia and breast development appeared as completely normal feminine structures but pubic and axillary hair was absent. Cytogenetic analysis showed a 46 XY karyotype. The values of sex hormones were as in adult males. The multi-sliced computed tomography (MSCT) showed structures on both sides of the pelvic region, suggestive of testes. Bilateral orchiectomy was performed. Hormone replacement therapy was prescribed after gonadectomy. Vaginal dilatation was advised to avoid dyspareunia. CONCLUSION: The diagnosis of complete androgen insensitivity is based on clinical findigs, hormonal analysis karyotype, visualization methods and genetic analysis. Bilateral gonadectomy is generally recommended in early adulthood to avoid the risk of testicular malignancy. Vaginal length may be short requiring dilatation in an effort to avoid dyspareunia. Vaginal surgery is rarely indicated for the creation of a functional vagina.


Assuntos
Síndrome de Resistência a Andrógenos/diagnóstico , Síndrome de Resistência a Andrógenos/sangue , Síndrome de Resistência a Andrógenos/genética , Diagnóstico Diferencial , Feminino , Testes Genéticos , Humanos , Cariotipagem , Masculino , Tomografia Computadorizada Multidetectores , Receptores Androgênicos/sangue , Adulto Jovem
13.
Fertil Steril ; 103(2): 548-53.e5, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25527234

RESUMO

OBJECTIVE: To investigate whether gene variants of SOHLH1 exist in Chinese and Serbian patients with primary ovarian insufficiency (POI). DESIGN: Case-control genetic study. SETTING: University hospitals. PATIENT(S): A total of 364 Han Chinese and 197 Serbian women with nonsyndromic POI and ethnically matched controls. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): SOHLH1 gene sequencing. RESULT(S): We found 10 novel heterozygous variants in our cohorts of 561 women with POI but none in the 600 ethnically matched controls. Statistical and bioinformatic analyses indicated that three of the eight variants in Chinese POI cases are potentially disease causing. They comprise two missense variants (p.Ser317Phe and p.Glu376Lys) that might each change activity of the SOHLH1 protein as a transcription factor and one variant (c.*118C>T) located in the 3' untranslated region of the SOHLH1 gene, which might generate a new binding site for the microRNA hsa-miR-888-5p. Of the two variants in the Serbian POI cases, both were synonymous, and no missense variant was identified. The allele frequencies of some known single-nucleotide polymorphisms were statistically significantly different between patients and controls in both the Chinese and Serbian groups. CONCLUSION(S): Our results suggest that SOHLH1 may be regarded as a new candidate gene for POI.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Insuficiência Ovariana Primária/diagnóstico , Insuficiência Ovariana Primária/genética , Adulto , Sequência de Aminoácidos , Grupo com Ancestrais do Continente Asiático/etnologia , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Estudos de Associação Genética/métodos , Humanos , Pessoa de Meia-Idade , Dados de Sequência Molecular , Insuficiência Ovariana Primária/etnologia , Sérvia/etnologia , Fatores de Transcrição/genética , Adulto Jovem
14.
ScientificWorldJournal ; 2014: 763563, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24982993

RESUMO

Atypical prenatal hormone exposure could be a factor in the development of transsexualism. There is evidence that the 2nd and 4th digit ratio (2D:4D) associates negatively with prenatal testosterone and positively with estrogens. The aim was to assess the difference in 2D:4D between female to male transsexuals (FMT) and male to female transsexuals (MFT) and controls. We examined 42 MFT, 38 FMT, and 45 control males and 48 control females. Precise measurements were made by X-rays at the ventral surface of both hands from the basal crease of the digit to the tip using vernier calliper. Control male and female patients had larger 2D:4D of the right hand when compared to the left hand. Control male's left hand ratio was lower than in control female's left hand. There was no difference in 2D:4D between MFT and control males. MFT showed similar 2D:4D of the right hand with control women indicating possible influencing factor in embryogenesis and consequently finger length changes. FMT showed the lowest 2D:4D of the left hand when compared to the control males and females. Results of our study go in favour of the biological aetiology of transsexualism.


Assuntos
Dedos/anatomia & histologia , Pessoas Transgênero , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Sérvia , Transexualidade/etiologia , Adulto Jovem
15.
Maturitas ; 77(1): 64-7, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24103315

RESUMO

OBJECTIVE: To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs rs3847153 and rs3108910; and one SNP each in HK3 (rs2278493), ESR1 (rs2234693) and BRSK1 (rs12611091) - are associated with premature ovarian failure (POF) in a different ethnic group (Serbian). DESIGN: Case-control genetic association study in 197 Serbian POF cases and 552 matched controls. RESULTS: None of the SNPs found associated with POF in Chinese cohort were found to be associated in the Serbian sample. CONCLUSIONS: In contrast to Han Chinese, no association was found between POF in Serbian women and any of the four tested loci: 8q22.3, HK3, ESR1 and BRSK1. This indicates that ethnically distinct populations may show differences in gene-regulating pathways and genes causing POF.


Assuntos
Receptor alfa de Estrogênio/genética , Grupos Étnicos/genética , Genótipo , Peptídeos e Proteínas de Sinalização Intracelular/genética , Menopausa Precoce/genética , Polimorfismo de Nucleotídeo Único , Insuficiência Ovariana Primária/genética , Proteínas Serina-Treonina Quinases/genética , Adolescente , Adulto , Grupo com Ancestrais do Continente Asiático , Estudos de Coortes , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença/etnologia , Humanos , Menopausa Precoce/etnologia , Insuficiência Ovariana Primária/etnologia , Sérvia , Adulto Jovem
16.
Srp Arh Celok Lek ; 141(5-6): 344-8, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23858805

RESUMO

INTRODUCTION: Premature ovarian failure (POF) is characterized by amenorrhea, hypergonadotropism and hypoestrogenism in women bellow 40 years. Osteoporosis is one of the late complications of POF. OBJECTIVE: To correlate collagen type I alpha1 (COLIA1) gene polymorphism with bone mineral density (BMD) in women with POF. METHODS: We determined the COLIA1 genotypes SS, Ss, ss in 66 women with POF. Single nucleotide polymorphism (G toT substitution) within the Sp 1-binding site in the first intron of the COLIA1 gene was assessed by polymerase chain reaction (PCR) followed by single-stranded conformation polymorphism (SSCP) analysis. Bone mineral density (BMD) was measured at the lumbar spine region by dual X-ray absorptiometry. STATISTICS: Kruskal-Wallis ANOVA, Chi-square test, Spearman correlation test. RESULTS: The relative distribution of COLIA1 genotype alleles was SS - 54.4%, Ss - 41.0% and ss - 4.5%. No significant differences were found between genotype groups in body mass index, age, duration of amenorrhea or BMD. A significant positive correlation was observed between BMI and parity. CONCLUSION: The COLIA1 gene is just one of many genes influencing bone characteristics. It may act as a marker for differences in bone quantity and quality, bone fragility and accelerated bone loss in older women. However, in young women with POF, COLIA1 cannot identify those at higher risk for osteoporosis.


Assuntos
Colágeno Tipo I/genética , Osteoporose , Insuficiência Ovariana Primária , Absorciometria de Fóton , Adulto , Fatores Etários , Índice de Massa Corporal , Densidade Óssea , Feminino , Predisposição Genética para Doença , Humanos , Vértebras Lombares/patologia , Pessoa de Meia-Idade , Osteoporose/diagnóstico , Osteoporose/etiologia , Osteoporose/genética , Polimorfismo Genético , Insuficiência Ovariana Primária/complicações , Insuficiência Ovariana Primária/genética , Estatística como Assunto
17.
Srp Arh Celok Lek ; 141(3-4): 232-6, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23745350

RESUMO

INTRODUCTION: Adenocarcinoma of the small bowel is a rare gastrointestinal neoplasm usually affecting the distal duodenum and proximal jejunum. Because of their rarity and poorly defined abdominal symptoms, a correct diagnosis is often delayed. CASE OUTLINE: We present a 43-year-old woman admitted at the Clinic for Endocrinology due to a large tumor (over 7 cm) of the left adrenal gland.The tumor was detected by ultrasound and confirmed by CT scan.The patient complained of abdominal pain in the left upper quadrant, fatigue and septic fever. Normal urinary catecholamines excluded pheochromocytoma. The endocrine evaluations revealed laboratory signs of subclinical hypercorticism: midnight cortisol 235 nmol/L, post 1 mg - overnight Dexamethasone suppression test for cortisol 95.5 nmol/L and basal ACTH 4.2 pg/mL. Plasma rennin activity and aldosterone were within the normal range. Surgery was performed. Intraoperative findings showed signs of acute peritonitis and a small ulceration of the jejunum below at 70 cm on the anal side from the Treitz's ligament. Adrenal glands were not enlarged. Patohistology and immunochemistry identified adenocarcinoma of the jejunum without infiltration of the lymphatic nodules. The extensive jejunal resection and lavage of the peritoneum were performed. Due to complications of massive peritonitis, the patient died seven days after surgery. CONCLUSION: Poorly defined symptoms and a low incidence make the diagnosis of small bowel carcinoma, particularly of the jejunal region, very difficult in spite of the new endoscopic techniques.


Assuntos
Adenocarcinoma/diagnóstico , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias do Jejuno/diagnóstico , Adulto , Diagnóstico Diferencial , Feminino , Humanos
18.
Srp Arh Celok Lek ; 141(1-2): 41-7, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23539909

RESUMO

INTRODUCTION: Menopause leads to the development of central adiposity, a more atherogenic lipid profile and increased incidence of metabolic syndrome independent of age and other factors. OBJECTIVE: The aim of the study was to investigate the relationships between anthropometric characteristics, sex hormones, lipids and fasting glucose in menopausal women. METHODS: The study included 87 menopausal women, who where divided into groups according to two criteria: BMI > or = 26.7 kg/m2 and BMI > or = 25 kg/m2. Anthropometric characteristics and blood pressure were measured. Blood was taken at 08.00 h for fasting glucose, triglycerides, cholesterol, HDL, LDL, apolipoprotein A, apolipoprotein B, lipoprotein(a) (Lp(a)), C-reactive protein, fibrinogen, follicle stimulating hormone (FSH), luteinizing hormone (LH), prolactin (PRL), estradiol, progesterone, testosterone and sex hormone binding globulin (SHBG). RESULTS: Significant differences between groups were found for weight, BMI, waist, hips circumference, waist/hip ratio (WHR), systolic and diastolic blood pressure, Lp(a), FSH, LH, PRL (for systolic blood pressure p < 0.05, for the rest p < 0.01) and fasting glucose (p < 0.05). In obese and overweight women with BMI > or = 26.7 kg/m2 significant negative correlations were found for FSH and glucose, SHBG and LDL, SHBG and total cholesterol, SHBG and glucose, BMI and HDL, WC and HDL. In obese and overweight women with BMI > or = 25 kg/m2 significant negative correlations were found for BMI and HDL, waist circumference (WC) and HDL, WHR and HDL, FSH and glucose, SHBG and glucose; significant positive correlations were between BMI and glucose, WC and glucose and WHR with triglycerides. CONCLUSION: Gaining weight and decreased SHBG are related to dyslipidemia and increased fasting glucose confirming increased incidence of metabolic abnormalities in the menopause.


Assuntos
Glicemia/análise , Lipídeos/sangue , Menopausa/sangue , Obesidade/sangue , Antropometria , Índice de Massa Corporal , Jejum , Feminino , Humanos , Pessoa de Meia-Idade
19.
Metabolism ; 62(6): 786-92, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23332445

RESUMO

OBJECTIVE: The aim of this study was to estimate insulin sensitivity (IS) in nondiabetic patients with adrenal incidentalomas (AI): nonfunctional adrenal incidentalomas (NAI) and patients with AI and subclinical Cushing's syndrome (SCS). METHODS: Based on the inclusion criteria (normal fasting glucose levels, no previous history of impaired fasting glucose and/or diabetes, and no medications or concomitant relevant diseases) and the exclusion criteria (pheochromocytoma, overt hypercortisolism, hyperaldosteronism, adrenal carcinoma, metastasis of extra-adrenal tumors, extra-adrenal malignancies), 142 subjects were drawn from a series of patients with AI. The subjects were age-, sex- and body mass index (BMI)-matched: 70 with NAI (50 women and 20 men), 37 with AI and SCS (31 women and 6 men) and 35 healthy control (HC) subjects (30 women and 5 men). The oral glucose tolerance test (OGTT) and several indices of insulin sensitivity (IS) were used: homeostasis model assessment (HOMA), quantitative insulin sensitivity check index (QUICKI), triglycerides and glucose index (TyG), index of whole-body insulin sensitivity (ISI-composite) and glucose to insulin ratio (G/I). RESULTS: There was a significant difference in IS between subjects with NAI and HC (HOMA, p=0.049; QUICKI, p=0.036; TyG, p=0.002; ISI-composite, p=0.024) and subjects with SCS and HC (AUC insulin, p=0.01; HOMA, p=0.003; QUICKI, p=0.042; TyG, p=0.008; ISI-composite, p=0.002). There was no difference in the tested indices of IS between subjects with NAI and SCS (p>0.05). However, subjects with SCS had a significantly higher prevalence of impaired glucose tolerance and higher area under the curve for glucose than subjects with NAI (p=0.0174). The linear regression analysis showed that 1 mg-DST cannot be used as a predictor of HOMA (R(2)=0.004, F=0.407, p=0.525). Significant relationship was found between 1 mg-DST and ISI-composite (R(2)=0.042, F=4.981, p=0.028) but this relationship was weak and standard error of estimate was high. The linear regression model also showed that ACTH cannot be used as a predictor of HOMA (R(2)=0.001, F=0.005, p=0.943) or ISI-composite (R(2)=0.015, F=1.819, p=0.187). CONCLUSIONS: Insulin resistance is a major cardiovascular risk factor; therefore, the assessment of IS in patients with AI, even nonfunctional, has a valuable place in the endocrine workup of these patients.


Assuntos
Neoplasias das Glândulas Suprarrenais/metabolismo , Síndrome de Cushing/metabolismo , Resistência à Insulina , Estudos de Casos e Controles , Feminino , Teste de Tolerância a Glucose , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade
20.
Mol Med ; 18: 1456-65, 2013 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-23196783

RESUMO

Glucocorticoid (GC) sensitivity depends on glucocorticoid receptor (GR) and heat shock proteins (Hsps). We investigated whether common GR genes (ER22/23EK, N363S, Bcl I, and 9ß) and adrenocorticotropin receptor promoter polymorphisms influence susceptibility for unilateral adrenal incidentaloma (AI), plus GR and Hsp expression in tumorous (n = 19), peritumorous (n = 13) and normal adrenocortical (n = 11) tissues. Patients (n = 112), population-matched controls (n = 100) and tumor tissues (n = 32) were genotyped for these polymorphisms. Postdexamethasone serum cortisol was higher in patients (p < 0.001). GR gene variants, larger allele of Bcl I (odds ratio [OR] 2.9; 95% confidence interval [CI] 1.7-5.1; p < 0.001] and minor allele of 9ß (OR 3.0; 95% CI 1.6-5.7; p < 0.001) were independent predictors of AI. In patients, the first allele is linked with larger tumors (p = 0.002) and the latter with higher postdexamethasone cortisol levels (p = 0.025). Both allele carriers had lesser waist circumference (p = 0.02), similar adrenocorticotropin and higher basal (p = 0.024) and postdexamethasone cortisol concentrations (p < 0.001). Tumorous and constitutional genotypes were similar. GR-D is the major receptor isoform in normal adrenal cortex by Western blotting. Loss of other receptor isoforms, decrease in immunostaining for GR (p < 0.0001), underexpression of chaperones (p ≤ 0.01) and the presence of inducible Hsp70 were found in adenomas. In conclusion, GR gene variants, C allele of Bcl I and minor allele of 9ß, are associated with AIs. Their concurrent presence in patients reduces GC sensitivity. Normal adrenal cortex preferentially expresses GR-D. In adenomas, the lack of other GR isoforms and underexpression of heat shock proteins perhaps permanently impair GC signaling, which could promote dysregulated cortisol production and tumor growth. The innate GC sensitivity probably modifies these effects.


Assuntos
Neoplasias das Glândulas Suprarrenais/genética , Glucocorticoides/farmacologia , Chaperonas Moleculares/genética , Receptores de Glucocorticoides/genética , Córtex Suprarrenal/efeitos dos fármacos , Córtex Suprarrenal/metabolismo , Córtex Suprarrenal/patologia , Neoplasias das Glândulas Suprarrenais/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Western Blotting , Estudos de Casos e Controles , Extratos Celulares , Feminino , Predisposição Genética para Doença , Haplótipos/genética , Proteínas de Choque Térmico/metabolismo , Humanos , Espaço Intracelular/efeitos dos fármacos , Espaço Intracelular/metabolismo , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Receptores da Corticotropina/genética , Fatores de Risco , Frações Subcelulares/efeitos dos fármacos , Frações Subcelulares/metabolismo
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