RESUMO
La función ovárica depende de la expresión de múltiples genes, por lo que las anomalías del cromosoma X y los autosomas revisten gran importancia en la etiología de la insuficiencia ovárica primaria (IOP). Las translocaciones de autosomas en mujeres con IOP son muy raras y solo se han detectado tres casos: dos translocaciones entre los cromosomas 2 y 15 en dos mujeres con cariotipo 46, XX, t (2, 15) (q32.3, q13.3)2; una translocación entre los cromosomas 13 y 14 en una mujer con cariotipo 45, XX, t (13; 14)3; por lo que nuestro caso sería el cuarto reporte de mujeres con translocaciones de autosomas e IOP.
Ovarian function depends on the expression of multiple genes, so Xchromosome abnormalities and autosomes are of great importance in the etiology of primary ovarian insufficiency (IOP). Autosomal translocations in women with IOP are very rare and only three cases have been detected: two translocations between chromosomes 2 and 15 in two women with karyotype 46, XX, t (2, 15) (q32.3, q13.3)2; a translocation between chromosomes 13 and 14 in a woman with karyotype 45, XX, t (13; 14)3 , so our case would be the fourth report of women with autosomal translocations and IOP.
Assuntos
Humanos , Feminino , Adulto , Aberrações Cromossômicas , Insuficiência Ovariana Primária/genética , Amenorreia/genética , Translocação Genética , CariótipoRESUMO
Resumen OBJETIVO: Determinar el perfil clínico y epidemiológico de las pacientes con insuficiencia ovárica primaria atendidas en la consulta endocrino-ginecológica de dos instituciones de salud de Medellín, Colombia. MATERIALES Y MÉTODOS: Estudio descriptivo, transversal y retrospectivo efectuado en pacientes con insuficiencia ovárica primaria atendidas en la consulta médica de endocrinología entre 2017 y 2018. Para el análisis se calcularon frecuencias absolutas y relativas para las variables cualitativas, para las cuantitativas, mediana. RESULTADOS: Se incluyeron 25 pacientes con edad promedio de 32.9 años. La edad promedio a la menarquia y amenorrea definitiva fue de 12.05 años y 28.5 años, respectivamente. Alrededor de los 28.7 años recibieron el diagnóstico; la menor y mayor edad al diagnóstico fue de 13 y 42 años, respectivamente. Se encontró que 21 de 25 pacientes tuvieron amenorrea secundaria, 14 de 25 ciclos regulares. Los síntomas más frecuentes fueron: bochornos en 11 de 25, 8 de 25 sudoración y 5 de 25 depresión. CONCLUSIONES: Las pacientes con insuficiencia ovárica primaria tienen un perfil clínico sumamente variable en cuanto a evolución de la enfermedad; sin embargo, casi todas las de este estudio tuvieron coincidencia en síntomas y signos. Es importante que se efectúen más estudios a este respecto que permitan ampliar la información epidemiológica local y nacional.
Abstract OBJECTIVE: To determine the clinical and epidemiological profile of primary ovarian failure in gynecological endocrine consultation in two health institutions in the city of Medellin. MATERIALS AND METHODS: retrospective cross-sectional descriptive study, in which the study population were adult women with primary ovarian failure who attended the endocrinological medical consultation from 2017 to 2018. The source of the information were clinical histories of patients with primary ovarian failure who attended this consultation. For the analysis, absolute and relative frequencies were calculated for the qualitative variables, for the quantitative ones, the median was used. RESULTS: twenty-five women who met the eligibility criteria were included; The average age of the patients was 32.96 years. The mean age of menarche and definitive amenorrhea of the patients was 12.05 years and 28.57 years respectively, at approximately 28.73 years of age, the patients were diagnosed with primary ovarian insufficiency, the lowest and highest age of diagnosis was at 13 and 42 years respectively. 21/25 patients had secondary amenorrhea, 14/25 of the patients had regular cycles. The most common symptoms were heats 11/25, sweating (8/25) and depression (5/25). CONCLUSIONS: Women with primary ovarian failure had a clinical profile with wide variation regarding the development of the disease, however, they match in most symptoms and signs. It's important to continue studying and expanding the information about epidemiology in national and international context.
RESUMO
Premature ovarian insufficiency (POI) is characterized by amenorrhea before age 40 with raised FSH level and decreased E2 level. POI, as a main reason for infertility, poses great threat on patients. physical and psychological health.By reviewing clinical trials of acupuncture in treating premature ovarian insufficiency, this study focuses on the significance and feasibility of patient registry about acupuncture therapy for premature ovarian insufficiency. Patient registry can be used in collecting real-world evidence and exploring effective intervention to improve pregnancy rate
RESUMO
Resumen Objetivo: Evaluar las características clínicas y bioquímicas de las pacientes con insuficiencia ovárica primaria. Materiales y métodos: Estudio observacional, ambispectivo y analítico, efectuado en pacientes atendidas entre los años 2005 a 2017 en el Instituto Nacional de Perinatología Isidro Espinosa de los Reyes con diagnóstico de insuficiencia ovárica primaria. Las pacientes se clasificaron en grupos según el origen del padecimiento. Se utilizó la prueba de ANOVA con corrección de Bonferroni para identificar diferencias en las variables cuantitativas en los cuatro grupos de estudio. Se realizó un modelo no lineal de tipo CHAID (X2 automatic interaction detector), con la finalidad de predecir la edad al inicio de la terapia hormonal, según el origen de la insuficiencia ovárica. Resultados: Se estudiaron 98 pacientes; 70 de ellas (71%) se clasificaron idiopáticas; 16 (17%) cromosómicas y 12 (12%) autoinmunitarias órgano-específicas. En las características clínicas se observó que las pacientes con etiología cromosómica tuvieron menopausia espontánea antes de los 30 años (80%); en las de causa quirúrgica fue después de los 30 años (53.8%). En relación con la densidad mineral ósea las mujeres con insuficiencia ovárica primaria de origen cromosómico resultaron con menos masa ósea al momento del diagnóstico en comparación con las demás causas; la columna lumbar (L1 a L4) resultó la más afectada. Conclusión: La principal causa de la insuficiencia ovárica primaria espontánea en la muestra estudiada fue idiopática, seguida de la cromosómica y autoinmunitaria órgano-especifica. El 12% tenía antecedente familiar, en primer grado, de insuficiencia ovárica primaria. Es obvia la necesidad de la asesoría genética.
Abstract Objective: Evaluate the clinical and biochemical characteristics of patients with primary ovarian failure. Materials and Methods: An observational, cross-sectional and ambispective study carried out in patients treated between 2005 and 2017 in the National Institute of Perinatology with a diagnosis of primary ovarian failure. The patients were classified into groups according to the origin of the condition. The ANOVA test with Bonferroni correction was used to identify differences in the quantitative variables in the four study groups. A nonlinear model of CHAID type (X2 automatic interaction detector) was performed, with the purpose of predicting the age at the beginning of the hormonal therapy according to the origin of the ovarian insufficiency. Results: 98 patients were studied; 70 of them (71%) were classified idiopathic; 16 (17%) chromosomal and 12 (12%) autoimmune organ-specific. In the clinical characteristics, it was observed that patients with chromosomal etiology had spontaneous menopause before the age of 30 (80%); in those of surgical origin it was after 30 years (53.8%). In relation to bone mineral density, women with primary ovarian insufficiency of chromosomal origin were found to have less bone mass at the time of diagnosis compared to the other causes; the lumbar spine (L1 to L4) was the most affected. Conclusion: The main cause of spontaneous primary ovarian failure in the sample studied was idiopathic, followed by chromosomal and organ-specific autoimmune. 12% had a family history, in first grade, of primary ovarian failure. The need for genetic counseling is obvious.
RESUMO
@#Blepharophimosis ptosis epicanthus inversus (BPES) is a relatively rare congenital disorder, which usually presents with classical eye manifestations. In some cases, it is associated with premature ovarian failure (POF). BPES is of two types, type I and type II. Type I is associated with POF along with eyelid malformations, while Type 2 has only eyelid malformations. Here, we report a family of BPES, in whom two sisters presented with secondary amenorrhea. On eye examination, they have blepharophimosis, ptosis, epicanthus inversus and telecanthus. Investigations revealed hypergonadotropic hypogonadism. Their father also has similar eye manifestations. Diagnosis of BPES type I was made and both were started on hormone replacement therapy. To make timely diagnosis of BPES, every patient with POF should specifically be checked for eye manifestations.
Assuntos
BlefarofimoseRESUMO
OBJECTIVES: Primary ovarian failure is a rare disorder, and approximately 90% of cases are of unknown etiology. The aim of this study was to search for mutations in NANOS3, a gene that was recently related to the etiology of primary ovarian failure, in a group of Brazilian women. METHODS: We screened for NANOS3 DNA variants in 30 consecutive women who were previously diagnosed with primary ovarian failure, of unknown etiology and compared the results with those from 185 women with normal fertility. The NANOS3 gene was amplified by polymerase chain reaction using pairs of specific primers and then sequenced. The resulting sequences were compared with control sequences available in the National Center for Biotechnology and Information database. RESULTS: No mutations in NANOS3 were found in primary ovarian failure patients, but four previously described polymorphisms were identified at a similar frequency in the control and primary ovarian failure groups. CONCLUSIONS: Mutations in NANOS3 were not associated with primary ovarian failure in the present cohort.
Assuntos
Humanos , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Proteínas de Ligação a RNA/genética , Insuficiência Ovariana Primária/genética , Mutação , Polimorfismo Genético , Brasil , Análise Mutacional de DNA , Estudos de Casos e Controles , Reação em Cadeia da Polimerase , Estudos de Coortes , Sequência de Aminoácidos , Eletroforese/métodos , AlelosRESUMO
PURPOSE: We examined the prevalence and CGG/AGG repeat structure of expanded alleles of the FMR1 gene in preconceptional and pregnant Korean women. MATERIALS AND METHODS: The CGG repeats in the FMR1 genes of 1,408 women were analyzed by polymerase chain reaction and Southern blot analysis. To estimate the prevalence of expansion alleles, the individuals were divided into low risk and high risk group. RESULTS: Within this population, 98.4% had normal alleles and 1.6% had abnormal alleles including intermediate (0.6%), premutation (0.5%), full mutation (0.1%), and hemizygous (0.4%) alleles. There were 2 premutation alleles (1:666, 95% confidence interval [CI] 1:250-1,776) in the low risk group and 5 premutation alleles (1:15, 95% 1:6-36) in the high risk group. There were 8 intermediate alleles (1:167, 95% CI 1:130-213) in the low risk group and 1 intermediate alleles (1:76, 95% CI 1:11-533) in the high group. Six of the 7 premutation alleles did not contain AGG interruptions within the repeats and 1 had a single AGG interruption. Four of the 9 intermediate alleles contained 2-3 AGG, 4 had a single AGG, and 1 had no AGG interruptions. CONCLUSION: Our study demonstrates the prevalence and CGG/AGG structure of expansion alleles in Korean women. The identified premutation prevalence is higher than that of other Asian populations and lower than that of Caucasian populations. Although our study is limited by size and population bias, our findings could prove useful for genetic counseling of preconceptional or pregnant women.
Assuntos
Feminino , Humanos , Alelos , Povo Asiático , Viés , Southern Blotting , Portador Sadio , Síndrome do Cromossomo X Frágil , Frequência do Gene , Aconselhamento Genético , Programas de Rastreamento , Reação em Cadeia da Polimerase , Gestantes , Prevalência , Expansão das Repetições de TrinucleotídeosRESUMO
BACKGROUND: Primary ovarian failure is reportedly increasing in recent years. Environmental factors have been frequently implicated as responsible for this increase, However, only a few of the environmental factors have been proven to cause the ovarian failure in human. METHODS: In June 1995, 24 female laborers, who worked in a factory which used Solvent #5200 (with a main chemical component being 2-bromopropane), developed symptoms of amenorrhea or irregular menstruation. All subjects underwent laboratory tests including measurement of serum LH, FSH, and estradioL Magnetic resonance imaging and ultrasonography of the pelvis were performed in all subjects. Laparoscopic examination was performed in 6 out of 24 patients after obtaining informed consent and 4 of 6 underwent ovarian biopsy. RESULTS: One subject was excluded because she had undergone hysterectomy previously. Among the remaining 23 subjects, 14 and 9 complained of amenorrhea and irregular menstrual periods, respectively. When we defined primary ovarian failure as FSH>30mIU/mL, all of those 14 patients with amenorrhea could be classified as primary ovarian failure. On the other hand, those 9 patients with irregular menstruations had normal FSH levels. Pathologic examination of ovaries showed interstitial fibrosis, loss of primordial follicles, and development arrest of follicles in the group with amenorrhea, similar to what is found in those who received chemotherapy or were exposed to radiation. CONCLUSION: The female laborers who were exposed to the solvent with 2-bromopropane developed primary ovarian failure. This failure was associated with longer duration of exposure. To our knowledge, this is the first report in the world indicating 2-bromopropane as a possible agent for ovarian failure.