Determinants of percent mammographic density in women with premature ovarian insufficiency.

OBJECTIVE: To evaluate the determinants of breast density in women with premature ovarian insufficiency (POI). METHODS: In a cross-sectional study of 163 women with POI undergoing mammography, percent mammographic density (PMD) was evaluated by digitizing the image. PMD was correlated with age, age at menarche, age at POI, time since POI, body mass index (BMI), gestational history and hormone therapy (HT) use (duration, dose, regimen). RESULTS: POI was diagnosed at a mean age of 32.3 ± 5.9 years. The mean age of the women at mammography was 41.3 ± 5.4 years; mean BMI was 27.4 ± 5.4 kg/m2 and mean PMD was 24.3 ± 18.5. Mean PMD did not differ between the different age groups evaluated (29-39, 40-49 and 50-55 years) or between users and non-users of HT. Mean duration of HT use was 5.6 ± 4.7 years. PMD was higher in nulligravidas compared to women who had been pregnant (p = 0.0016); however, POI occurred earlier in nulligravidas (p < 0.0001). PMD correlated negatively with BMI (r = -0.27; p = 0.0005). CONCLUSION: In women with POI, HT use had no effect on PMD, irrespective of the duration of use, dose or regimen. Pregnancy and BMI were consistently associated with PMD, with density being greater in nulligravidas and in women with lower BMI.

GAPO syndrome: a new syndromic cause of premature ovarian insufficiency.

Premature ovarian insufficiency has the following causes: genetic, autoimmune, metabolic, infectious, and iatrogenic dysfunctions (including radiotherapy, chemotherapy and surgery). However, premature ovarian insufficiency remains without a definite cause in a substantial number of cases. This article describes GAPO syndrome in association with premature ovarian insufficiency, as well as a novel ANTXR1 gene mutation. Histopathological study of the ovaries of a woman with hypergonadotropic hypogonadism revealed extensive deposition of hyaline extracellular material, with bilateral parenchymal atrophy and follicular depletion. Molecular study revealed a novel ANTXR1 gene mutation. The homozygous c.378 + 3A > G transition at the consensus donor splice site of intron 4 was identified. Our results support the involvement of ANTRX1 gene mutations in deregulated extracellular matrix. In addition, our study identified a novel ANTXR1 mutation causing GAPO syndrome, indicating it as a new cause of early loss of ovarian function.

Dyspareunia and lubrication in premature ovarian failure using hormonal therapy and vaginal health.

OBJECTIVE: To evaluate vaginal microbiological and functional aspects in women with and without premature ovarian failure (POF) and the relationship with sexual function. METHODS: A cross-sectional study of 36 women with POF under hormonal therapy who were age-matched with 36 women with normal gonadal function. The vaginal tropism was assessed through hormonal vaginal cytology, vaginal pH and vaginal health index (VHI). Vaginal flora were assessed by the amine test, bacterioscopy and culture for fungi. Sexual function was evaluated through the questionnaire Female Sexual Function Index (FSFI). RESULTS: Women in both groups were of similar age and showed similar marital status. The two groups presented vaginal tropic scores according to the VHI but the tropism was worse among women in the POF group. No difference was observed with respect to hormonal cytology and pH. Vaginal flora was similar in both groups. Women with POF showed worse sexual performance with more pain and poorer lubrication than women in the control group. The VHI, the only parameter evaluated showing statistical difference between the groups, did not correlate with the domains of pain and lubrication in the FSFI questionnaire. CONCLUSION: These findings suggest that the use of systemic estrogen among women with POF is not enough to improve complaints of lubrication and pain despite conferring similar tropism and vaginal flora. Other therapeutic options need to be evaluated.

Myocardial scarring by delayed enhancement cardiovascular magnetic resonance in thalassaemia major.

BACKGROUND: Cardiovascular magnetic resonance (CMR) by delayed enhancement (DE) enables visualisation of myocardial scarring, but no dedicated studies are available in thalassaemia major. OBJECTIVE: To investigate the prevalence, extent, clinical and instrumental correlates of myocardial fibrosis or necrosis by DE CMR in patients with thalassaemia major. PATIENTS: 115 Patients with thalassaemia major consecutively examined at an MRI laboratory. METHODS: DE images were acquired to quantify myocardial scarring. Myocardial iron overload was determined by multislice multiecho T2*. Cine images were obtained to evaluate biventricular function. RESULTS: DE areas were present in 28/115 patients (24%). The mean (SD) extent of DE was 3.9 (2.4)%. In 26 patients the location of fibrosis was not specific and patchy distribution was prevalent. Two patients showed transmural DE following coronary distribution. The DE group was significantly older than the no-DE group (31 (7.7) years vs 26 (7.7) years, p = 0.004). No significant relation with heart T2* values and biventricular function was found. A significant correlation was found between the presence of DE and changes in ECG (ECG abnormal in the DE group 22/28 patients and in the no-DE group 30/87 patients; chi(2) = 14.9; p<0.001). CONCLUSIONS: In patients with thalassaemia the significant presence of myocardial fibrosis/necrosis seems to be a time-dependent process correlating with cardiovascular risk factors and cardiac complications. Levels of HCV antibodies are significantly higher in the serum of patients with thalassaemia with myocardial fibrosis/necrosis. ECG changes showed a good accuracy in predicting myocardial scarring.

Thyroid autoimmunity and thyroid dysfunction in women with endometriosis.

BACKGROUND: Women with endometriosis may have higher rates of autoimmune disorders, including hypothyroidism. The objective of this study was to compare the prevalence of thyroid dysfunction and autoimmune thyroid disease (AITD) between women with endometriosis and a control group. METHODS: This was a cross-sectional study carried out in 148 women with surgically confirmed endometriosis and 158 controls. The mean age of the study group was 34.6 (7.1 SD) years (range 21-42) and 32.1 (7.7 SD) years (range 18-44) for controls. Serum levels of thyroid-stimulating hormone, free thyroxine and the anti-thyroperoxidase and anti-thyroglobulin antibodies were evaluated. RESULTS: Thyroid disorders were identified in 20.9% of the endometriosis group and 26.5% of the control group (P = 0.25). The overall frequency of thyroid dysfunction was 12.2% and 10.8% for the endometriosis and control groups, and the frequency of positive thyroid antibodies, 14.9% and 22.2%, respectively (P = 0.20). Endometriosis stage and infertility history were not associated with thyroid dysfunction and AITD in the study group. CONCLUSIONS: The prevalence of thyroid dysfunction and AITD was similar in the two study groups. Screening for thyroid disturbances in women with endometriosis is not indicated.

Time elapsed from onset of symptoms to diagnosis of endometriosis in a cohort study of Brazilian women.

BACKGROUND: The study aim was to assess the time elapsed between onset of symptoms and diagnosis of endometriosis, and to identify the factors associated with diagnostic delay in a group of Brazilian women. METHODS: In this retrospective cohort study, 200 women with surgically confirmed endometriosis were interviewed at an endometriosis outpatient clinic. RESULTS: The median (interquartile range) time elapsed from onset of symptoms until diagnosis of endometriosis was 7.0 (range 3.5-12.1) years. The younger the women at onset of symptoms, the longer the period for diagnosis to be made: the median delay was 12.1 (range 8.0-17.2) years in women aged < or =19 years, and 3.3 (range 2.0-5.5) years in women aged > or =30 years. The median time period between onset of symptoms and diagnosis was 4.0 (2.0-6.0) years for women whose main complaint was infertility, but 7.4 (3.6-13.0) years for those with pelvic pain. CONCLUSIONS: The delay in diagnosis of endometriosis was considered to be long, and especially so for young women with pelvic pain. More information relating to endometriosis should be offered to general physicians and gynaecologists in order to reduce the time taken to diagnose this condition.

[Development of puberty in girls treated for acute lymphocytic leukemia]. / Desenvolvimento puberal em meninas tratadas de LLA.

BACKGROUND: In order to evaluate the puberal development of girls treated by Acute Lymphocytic Leukaemia (ALL) a retrospective study was done at Campinas-SP, Brazil. MATERIAL AND METHODS: Forty two girls were treated by ALL with either 18 or 24 Grays of cranial irradiation. All patients were treated with chemotherapy including intrathecal methotrexate in similar dose regimens in either groups. RESULTS: The results showed lower mean ages at telarche, pubarche and menarche in the treated group, mainly in the group treated before five years old. No differences were observed in the 18 Grays or 24 Grays group. CONCLUSIONS: Our data suggest that girls treated by ALL have a precocious puberal development.

Desenvolvimento puberal em meninas tratadas de LLA / Development of puberty in girls treated by acute lymphocytic leukaemia

Objetivo. Com o objetivo de avaliar o desenvolvimento puberal após o tratamento de leucemia linfóide aguda (LLA) na infância, foi realizado um estudo retrospectivo, em meninas tratadas de janeiro de 1980 a janeiro de 1991, no Centro de Investigaçoes Hematológicas "Dr. Domingos A. Boldrini", em Campinas-SP. Casuística e Método. Foram selecionadas 42 meninas, tratadas antes da puberdade com quimioterapia sistêmica e intratecal e radioterapia cranial, utilizando doses de 18 a 24 Grays (Gy). Resultados. As idades médias da telarca, pubarca e menarca foram inferiores às do grupo-controle, embora com significância estatística apenas para a idade da telarca. Nao houve diferenças entre os grupos tratados com 18 ou 24Gy. As meninas tratadas antes dos cinco anos de idade apresentaram idade média da menarca estatisticamente inferior àquelas tratadas após cinco anos e em relaçao ao grupo-controle. Conclusao. Os resultados mostraram que o desenvolvimento puberbal em meninas tratadas de LLA na infância foi mais precoce que o de mininas saudáveis.

[Treatment of acute lymphocytic leukemia and growth]. / Tratamento de leucemia linfóide aguda e crescimento.

BACKGROUND: The treatment of the acute lymphocytic leukaemia can determine impaired growth. SUBJECTS AND METHOD: All the patients had length measurements at the time of the beginning of the treatment and, at least, one year after the end of it. CONCLUSIONS: There was impaired growth after the treatment according to the dose regimens (18 or 24 Grays). No relation was observed related to the age at the diagnosis.

Tratamento de leucemia linfóide aguda e crescimento / Treatment of acute lymphocytic leukemia and growth

Objetivo. Determinar alteraçoes no crescimento após o tratamento de leucemia linfóide aguda em meninas. Pacientes e Métodos. Realizou-se estudo restrospectivo com 59 meninas que apresentavam medidas de estatura antes e com no mínimo um ano do tratamento, subdivididas de acordo com a dose de radioterapia cranial utilizada [18 ou 24 Grays Gy] e com a idade no início do tratamento (antes e após os cinco anos de idade). Resultados. Observou-se deficiência do crescimento com um, dois e mais de dois anos do tratamento. O crescimento foi mais afetado no grupo tratado com 24Gy, quando comparado com 18Gy. Nao houve diferenças com relaçao à idade no início do tratamento. Conclusoes. Houve retardo no crescimento após o tratamento, independentemente da idade em que foi realizado, mas dependente da dose de radioterapia cranial utilizada.