ABSTRACT
Chronic spontaneous urticaria (CSU), defined as the occurrence of spontaneous wheals for more than six weeks, has been associated with autoimmune diseases. Herein, we report the unusual association of CSU, Graves' disease, and premature ovarian failure. Human leukocyte antigen (HLA) studies were performed. A 36-year-old woman presented symptoms and signs of hyperthyroidism for three months. In the same period, the patient complained of widespread urticarial wheals, intensely itchy, and poorly responsive to therapy with antihistaminic agents. Hyperthyroidism was confirmed biochemically, and treatment with methimazole was started. As hyperthyroidism improved, a marked improvement in her urticaria was also observed. However, the patient continued to complain of amenorrhea. Endocrine evaluation, at the age 38, was consistent with premature ovarian failure. This is the first report of coexistence of GD, CSU, and POF. The genetic background of such unusual association is a specific combination of HLA.
A urticária crônica idiopática, caracterizada pelo aparecimento de pápulas espontâneas e persistentes por pelo menos seis semanas, tem sido associada a doenças autoimunes. Apresentamos aqui o caso da associação incomum entre urticária crônica idiopática, doença de Graves e falência ovariana prematura. Foram conduzidos estudos de tipagem HLA. Uma mulher de 36 anos apresentou sinais e sintomas de hipertireoidismo por três meses. No mesmo período, a paciente queixou-se do aparecimento de pápulas urticariformes generalizadas que coçavam intensamente e não eram responsivas ao tratamento com anti-histamínicos. O hipertireoidismo foi confirmado bioquimicamente, e o tratamento com metimazol foi iniciado. Assim que os valores hormonais se normalizaram, observou-se uma melhoria significativa do quadro de urticária. No entanto, a paciente continuou a apresentar amenorreia. A avaliação endocrinológica, com a idade de 38 anos, mostrou falência ovariana prematura. Este é o primeiro caso de associação entre doença de Graves, urticária idiopática crônica e falência ovariana prematura. A base genética dessa associação incomum é representada por combinações específicas de haplótipos HLA.
Subject(s)
Adult , Female , Humans , Graves Disease/complications , HLA Antigens/immunology , Haplotypes/immunology , Primary Ovarian Insufficiency/complications , Urticaria/complications , Chronic Disease , Graves Disease/immunology , Primary Ovarian Insufficiency/immunology , Time Factors , Urticaria/immunologyABSTRACT
La falla ovárica precoz es una amenorrea secundaria que se presenta en una mujer antes de los 40 años, que conlleva a hipoestrogenismo, infertilidad y las consecuencias de la menopausia prematura, como osteoporosis, enfermedad cardiovascular, trastornos neurovegetativos, entre otros. Se presenta agotamiento folicular, por dotación insuficiente de folículos o destrucción acelerada de los ovocitos. Las causas son varias, pero predominan las genéticas, autoinmunes y las iatrogénicas. Entre las causas genéticas, son frecuentes las deleciones Xq y Xp, las translocaciones, aberraciones numéricas (47,XXX, 45,X0), premutaciones de X frágil, entre otros. Entre las enfermedades autoinmunes son de importancia la insuficiencia poliglandular tipo I y II. Las iatrogenias pueden ser quirúrgicas en ovarios o trompas y, con la presencia del cáncer de mama en mujeres jóvenes, el tratamiento oncológico puede destruir las células germinales, por lo que hoy se sugiere utilizar técnicas de preservación de la función ovárica y de la fertilidad. En el manejo de la falla ovárica precoz, una vez determinada la causa, se sugiere el uso de terapia estrogénica, aunque no se ha hecho investigación en el tipo de hormona a utilizar, dosis y consecuencias a largo plazo. Tener presente la prevención y manejo de la osteoporosis y la enfermedad cardiovascular. Con relación a la infertilidad, se está realizando criopreservación de embriones y ovocitos para autodonación, así como criopreservación de tejido ovárico cortical para autotrasplante posterior, con éxitos y limitaciones. Los agonistas de GnRH podrían actuar en proteger los ovarios en casos de quimioterapia. Se observa con atención la terapia génica experimental en casos de falla ovárica precoz
Premature ovarian failure is characterized by secondary amenorrhea affectinga woman before the age of 40, leading to hypoestrogenism, infertility, and consequences of premature menopause, such as osteoporosis, cardiovascular disease, neurovegetative alterations, and others. Follicular exhaustion is due to either follicles shortage or oocytes accelerated destruction. Main causes are genetic, autoimmune and iatrogenic. Among genetic causes Xq and Xp deletions, translocations, numeric aberrations (47,XXX, 45,X0), fragil X premutations are frequent. Type I and type II poliglandular insufficiency are important causes among autoimmune diseases. Iatrogenia may occur in surgery of the ovaries and Fallopian tubes and with oncologic treatment that destroys germinal cells in young women with breast cancer. Nowadays use of ovarian function and fertility preservation techniques are suggested. Once the cause is determined estrogens use is recommended although little research on hormone type, dosage and long term consequences has been done. Care must be placed in osteoporosis and cardiovascular disease prevention and treatment. In regards to infertility, there is already experience with embryos and oocytes cryopreservation for autodonation, and cortical ovarian tissue cryopreservation for posterior autotrasplantation, with success as well as limitations. GnRH agonists could protect the ovaries when chemotherapy is used. Attention is placed on experimental gene therapy in cases of premature ovarian failure
Subject(s)
Female , Humans , Iatrogenic Disease , Fertility , Primary Ovarian Insufficiency/genetics , Primary Ovarian Insufficiency/immunology , Hormone Replacement TherapyABSTRACT
La falla ovárica precoz es una amenorrea secundaria que se presenta en una mujer antes de los 40 años, que conlleva a hipoestrogenismo, infertilidad y las consecuencias de la menopausia prematura, como osteoporosis, enfermedad cardiovascular, trastornos neurovegetativos, entre otros. Se presenta agotamiento folicular, por dotación insuficiente de folículos o destrucción acelerada de los ovocitos. Las causas son varias, pero predominan las genéticas, autoinmunes y las iatrogénicas. Entre las causas genéticas, son frecuentes las deleciones Xq y Xp, las translocaciones, aberraciones numéricas (47,XXX, 45,X0), premutaciones de X frágil, entre otros. Entre las enfermedades autoinmunes son de importancia la insuficiencia poliglandular tipo I y II. Las iatrogenias pueden ser quirúrgicas en ovarios o trompas y, con la presencia del cáncer de mama en mujeres jóvenes, el tratamiento oncológico puede destruir las células germinales, por lo que hoy se sugiere utilizar técnicas de preservación de la función ovárica y de la fertilidad. En el manejo de la falla ovárica precoz, una vez determinada la causa, se sugiere el uso de terapia estrogénica, aunque no se ha hecho investigación en el tipo de hormona a utilizar, dosis y consecuencias a largo plazo. Tener presente la prevención y manejo de la osteoporosis y la enfermedad cardiovascular. Con relación a la infertilidad, se está realizando criopreservación de embriones y ovocitos para autodonación, así como criopreservación de tejido ovárico cortical para autotrasplante posterior, con éxitos y limitaciones. Los agonistas de GnRH podrían actuar en proteger los ovarios en casos de quimioterapia. Se observa con atención la terapia génica experimental en casos de falla ovárica precoz.
Premature ovarian failure is characterized by secondary amenorrhea affectinga woman before the age of 40, leading to hypoestrogenism, infertility, and consequences of premature menopause, such as osteoporosis, cardiovascular disease, neurovegetative alterations, and others. Follicular exhaustion is due to either follicles shortage or oocytes accelerated destruction. Main causes are genetic, autoimmune and iatrogenic. Among genetic causes Xq and Xp deletions, translocations, numeric aberrations (47,XXX, 45,X0), fragil X premutations are frequent. Type I and type II poliglandular insufficiency are important causes among autoimmune diseases. Iatrogenia may occur in surgery of the ovaries and Fallopian tubes and with oncologic treatment that destroys germinal cells in young women with breast cancer. Nowadays use of ovarian function and fertility preservation techniques are suggested. Once the cause is determined estrogens use is recommended although little research on hormone type, dosage and long term consequences has been done. Care must be placed in osteoporosis and cardiovascular disease prevention and treatment. In regards to infertility, there is already experience with embryos and oocytes cryopreservation for autodonation, and cortical ovarian tissue cryopreservation for posterior autotrasplantation, with success as well as limitations. GnRH agonists could protect the ovaries when chemotherapy is used. Attention is placed on experimental gene therapy in cases of premature ovarian failure.