Cardiovascular Risk Factors in Premature Ovarian Insufficiency using Hormonal Therapy / Fatores de risco cardiovascular na insuficiência ovariana prematura em uso de terapia hormonal

Abstract Objective Premature ovarian insufficiency (POI) is characterized by early hypoestrogenism. An increased risk of cardiovascular (CV) disease is a long-term consequence of POI. A challenge of hormone therapy (HT) is to reduce the CV risk. Methods Cross-sectional study with lipid profile analysis (total cholesterol, LDL-C, HDL-C, VLDL-C and triglycerides), blood glucose levels and arterial blood pressure of women with POI using HT, compared with age and BMI-matched women with normal ovarian function (controls). Results The mean age and BMI of 102 POI patients using HT and 102 controls were 37.2 ± 6.0 and 37.3 ± 5.9 years, respectively; 27.0 ± 5.2 and 27.1 ± 5.4 kg/m2. There wasn't difference between groups in arterial systolic and diastolic blood pressure, blood glucose levels, total cholesterol, LDL-C, VLDL-C and triglycerides. HDL-C levels were significantly higher in the POI group (56.3 ± 14.6 and 52 ± 13.9mg/dL; p = 0.03). Arterial hypertension was the most prevalent chronic disease (12% in the POI group, 19% in the control group, p = ns), followed by dyslipidemia (6 and 5%, in POI and control women). Conclusion Women with POI using HT have blood pressure levels, lipid and glycemic profile and prevalence of hypertension and dyslipidemia similar to women of the same age and BMI with preserved gonadal function, in addition to better HDL levels.

Resumo Objetivo A insuficiência ovariana prematura (IOP) é caracterizada pelo hipoestrogenismo precoce. Risco aumentado de doença cardiovascular (CV) é uma consequência a longo prazo da IOP e um desafio da terapia hormonal (TH) é reduzir o risco CV. Métodos Estudo transversal com análise do perfil lipídico (colesterol total, LDL-C, HDL-C, VLDL-C e triglicerídeos), glicemia e pressão arterial de mulheres com IOP em uso de TH, em comparação a mulheres com função ovariana normal (controles) pareadas por idade e IMC. Resultados A média de idade e IMC de 102 pacientes com IOP em uso de TH e 102 controles foi de 37,2 ± 6,0 e 37,3 ± 5,9 anos, respectivamente; 27,0 ± 5,2 e 27,1 ± 5,4 kg/m2. Não houve diferença entre os grupos na pressão arterial sistólica e diastólica, glicemia, colesterol total, LDL-C, VLDL-C e triglicerídeos. Os níveis de HDL-C foram significativamente maiores no grupo IOP (56,3 ± 14,6 e 52 ± 13,9mg/dL; p = 0,03). A hipertensão arterial foi a doença crônica mais prevalente (12% no grupo POI, 19% no grupo controle, p = ns), seguida da dislipidemia (6 e 5%, no grupo POI e controle). Conclusão Mulheres com IOP em uso de TH apresentam níveis pressóricos, perfil lipídico e glicêmico e prevalência de hipertensão e dislipidemia semelhantes às mulheres da mesma idade e IMC com função gonadal preservada, além de melhores níveis de HDL.

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study

ABSTRACT BACKGROUND: Chromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce. OBJECTIVES: To evaluate the frequency and types of CAs detected by karyotyping in patients with SA. DESIGN AND SETTING: This retrospective study was performed in a reference clinical genetic service in South Brazil. METHODS: Data were obtained from the medical records of patients with SA who were evaluated between 1975 and 2022. Fisher's bicaudate exact test and Student's t-test were used, and P < 0.05 was considered significant. RESULTS: Among 43 patients with SA, 14 (32.6%) had CAs, namely del (Xq) (n = 3), 45,X (n = 2), 46,X,r(X)/45,X (n = 2), 46,XX/45,X (n = 1), 46,X,i(q10)/45,X (n = 1), 47,XXX (n = 1), 46,XX/47,XXX (n = 1), 46,XX/47,XX,+mar (n = 1), 45,XX,trob(13;14)(q10;q10)/46,XXX,trob(13;14)(q10;q10) (n = 1), and 46,XX,t(2;21)(q23;q11.2) (n = 1). Additional findings were observed mostly among patients with CA compared with those without CA (P = 0.0021). No difference in the mean age was observed between the patients with SA with or without CAs (P = 0.268025). CONCLUSIONS: CAs are common among patients with SA, especially those with short stature and additional findings. They are predominantly structural, involve the X chromosome in a mosaic, and are compatible with the Turner syndrome. Patients with SA, even if isolated, may have CAs, particularly del (Xq) and triple X.

A Case of Secondary Amenorrhea with Polycystic Ovary Syndrome Successfully Treated with Shokenchuto / 日本東洋医学雑誌

Here, we report a case of adolescent woman with secondary amenorrhea complicated with polycystic ovary syndrome, which had a normal menstrual period after prescribed shokenchuto under the therapy based on Kampo diagnosis. The case is 14-year-old woman, who had already hormonal therapy due to the secondary amenorrhea, and was difficult to treat because of edema and weight gain. Secondary amenorrhea, multiple cysts in the ovary, and hypertestosteroneemia were confirmed, and the patient was diagnosed with polycystic ovary syndrome. Abdominal pattern was weak and the abnormalities of the abdominal strength were prominent. Therefore, we administered her shokenchuto. After two weeks, menstruation began, and thereafter the menstruation had progressed without any irregularities. Blood examination also showed normal testosterone level. It was suggested that it would be important to focus on the preparation for digestive function and to treat the secondary amenorrhea of adolescent women.

Anovulación y amenorrea secundaria: enfoque fácil y práctico / Anovulation and secondary amenorrhea: easy and practical approach / Anovulação e amenorreia secundária: abordagem fácil e prática

Resumen: La anovulación ocurre en el 30 % de la Infertilidad y la amenorrea secundarla en el 4% de mujeres en edad reproductiva. Ambas alteraciones se pueden tornar crónicas conllevando riesgos de hiperestrogenismo e hipoestrogenismo crónicos. Tanto la anovulación como la amenorrea secundaria tienen las mismas causas endocrinas, excepto que la amenorrea tiene una adicional de causa uterina. No obstante existen muchas clasificaciones etiológicas, unas combinan la amenorrea secundaria con la primaria, otras se enfocan más a la anovulación y algunas agrupan las etiologías en compartimentos, sin lograr hacerlo en forma integral. El objetivo es revisar las clasificaciones etiológicas de anovulación y amenorrea secundaria, junto con la actualización de cada una de esas causas, a fin de seleccionar la clasificación que las agrupe integralmente para enfocar el manejo en forma fácil y práctica. Para ello, se revisó la literatura médica reciente en libros de texto, PubMed, Ovid, Clinical guidelines y Cochrane library, con palabras claves. Se concluye que la clasificación etiológica integral en cinco compartimentos es una guía fácil de seguir, para lograr el diagnóstico de cada una de esas causas, actualmente, cuando existen medicamentos y procedimientos quirúrgicos seguros para manejarlas como anovulación o como amenorrea secundaria.

Abstract: Anovulation occurs in 30% of infertility and secondary amenorrhea In 4% of women In reproductive age. Both alterations can become chronic, carrying risks of chronic hyperestrogenism and hypoestrogenism. Both anovulation and secondary amenorrhea have the same endocrine causes, except that amenorrhea has an additional uterine cause. However, there are many etiological classifications, some combine secondary and primary amenorrhea, others focus more on anovulation and some group the etiologies into compartments, without achieving a comprehensive approach. The objective is to review the etiological classifications of anovulation and secondary amenorrhea, together with the update of each one of these causes, in order to select the classification that can integrally groups them so that to their management can be focused on an easy and practical way. For this purpose, recent medical literature in textbooks, PubMed, Ovid, Clinical guidelines and Cochrane library was reviewed with key words. It is concluded that the comprehensive etiological classification in five compartments is an easy guide to follow to achieve the diagnosis of each of these causes, currently, when there are drugs and safe surgical procedures to manage them as anovulation or secondary amenorrhea.

Resumo: A anovulação ocorre em 30 % da Infertilidade e a amenorreia secundária em 4 % de mulheres em idade reprodutiva. Ambas as alterações podem se tornar crônicas, implicando riscos de hiperestrogenismo e hipoestrogenismo crônicos. Tanto a anovulação quanto a amenorreia secundária têm as mesmas causas endócrinas, exceto que esta última tem ainda causa uterina. Contudo, existem muitas classificações etiológicas, umas combinam a amenorreia secundária com a primária, outras se focam mais na anovulação, e algumas agrupam as etiologias em compartimentos sem poder fazer isso de forma integral. O objetivo é revisar as classificações etiológicas de anovulação e amenorreia secundária, junto com a atualização de cada uma dessas causas, a fim de selecionar a classificação que as agrupe integralmente para focar o manejo de forma fácil e prática. Para isso, foi revisada a literatura médica recente em textos consultados em PubMed, Ovid, Clinical guidelines e Cochrane library, a partir de palavras-chave. Conclui-se que a classificação etiológica integral em cinco compartimentos é um guia fácil de seguir para obter o diagnóstico de cada uma dessas causas, atualmente, quando existem medicamentos e procedimentos cirúrgicos seguros para manejá-las como anovulação ou como amenorreia secundária.

Tubercular pyometra in a young unmarried female - dilemma and pitfalls in diagnosis: a rare case report with review of literature

This rare case is the first case being reported as tubercular pyometra in a young unmarried woman. Diagnosis of genital tuberculosis which is a form of EPTB (extra pulmonary TB) can be baffling, compelling a high index of suspicion owing to paucibacillary load in the biological specimens. A negative smear for acid-fast bacilli, lack of granuloma on histopathology and failure to culture mycobacterium tuberculosis do not exclude the diagnosis of EPTB. A 25-year-old unmarried, government employee from Bihar presented to our OPD with secondary amenorrhea for two months carrying with her an USG, CT and MRI done in Bihar suggesting enlarged uterus with fluid collection. CT-also reported few enlarged lymph nodes. Her preoperative investigations revealed an elevated ESR and x-ray chest was normal. Dilatation was done under ultrasonic guidance in OT and 150 cc of thick caseous material was drained A gentle curettage was done on lateral wall near cornea and both the caseous material and endometrial tissue was sent for gram staining, TB-PCR (polymerase chain reaction), NAAT (nucleic acid amplification techniques) and culture. In the post-operative period gram staining for AFB, NAAT, TB-PCR all came negative and it was difficult to convince patient to take ATT. However, on day 10, HPE report came as granuloma suggestive of TB and patient was put on ATT. Culture too was reported negative later.  Paucibacillary female genital TB (FGTB) is difficult to diagnose because of varied presentation and limitations of diagnostic tests A raised ESR is presumptive but non-specific. Other tests are x-ray chest, HSG, endometrial tissue for TB PCR nucleic acid amplification techniques (NAAT, HPE and culture (conventional or Bactec). Patients with EPTB are, however, more likely to have negative sputum smear results and many EPTB cases do not have direct lung involvement.  Currently, there are no standard guidelines or algorithm for the diagnosis of FGTB. Female genital TB has varying presentation and diagnosis is difficult because of the paucibacillary nature.

Perfil clínico y epidemiológico de la insuficiencia ovárica primaria en la consulta endocrino-ginecológica de dos instituciones de salud de Medellín, Colombia / Clinical and epidemiological profile of primary ovarian failure in gynecological endocrine consultation in two health institutions in the city of Medellin, Colombia

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.

Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) type 1 in an Indian Family / Journal of the ASEAN Federation of Endocrine Societies

@#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.

Chromosome karyotypte and clinical analyse in 225 amenorrheas / 国际检验医学杂志

Objective To analyse the suffer′excrescent circumstance in chromosome who are primary amenorrhea or secondary amenorrhea and inquiry its clinical meaning .Methods Take out patients′peypheyal vein blood to cultuve ,the chromosome was pre‐pared ,G band was analysed .Results primary amenorrhea or secondary amenorrhea suffer totally 225 ,there were 63 with chromo‐som abnormal karyotyptes which occupies 28% ;Among 148 the patiens of primary amenorrhea ,chromosom abnormal karyotyptes were 55 examples which occupies 37 .16% ,secondary amenorrhea is 77 examples ,chromosom abnormal karyotyptes were 8 exam‐ples which occupies 10 .39% .Conclusion Chromosome abnormals are the main cause of primary amenorrhea and secondary amen‐orrhea .in patients with chromosom analyse ,to kncw the cause of amenorrhea ,early symptomatic treatment is important .

Clinical research of impulse GnRH infusion treatment to a patient with central secondary amenorrhea / 中华内分泌代谢杂志

Objective To apply continuous subcutaneous pulse infusion of gonadotropin-releasing hormone (GnRH) to treat patients with central secondary amenorrhea,and to observe the induction of spontaneous ovulation and natural fertilization.Methods Using micro-pulse infusion pumps with each 90-minute infusion of LHRH 10 μg daily,the serum LH,FSH,estrogen,and progesterone levels ; and change in endometrium and ovarian size before and after treatment were monitored.The end point is natural pregnancy.Results The levels of serum LH,FSH,and estrogen were obviously increased after 4 weeks of treatment.The natural menstrual cycle was rebuilt after 8 weeks of treatment.The patient was pregnant and the treatment was stopped by 16 weeks.The experience of pregnancy was favourable.40 weeks later,the patient delivered a healthy female infant via caesarean section.Conclusions It was the first time in China that the technology of micro GnRH pump was applied in patients with secondary central amenorrhea.The result demonstrates that this technology can perfectly simulate the physiology of hypothalamic GnRH secretion.At present,more patients are included in this research to confirm the effectiveness.

Retrospective Multicenter Study on Clinical Aspects in Premature Ovarian Failure / 대한폐경학회지

OBJECTIVES: Premature ovarian failure (POF) is a syndrome defined as the cessation of ovarian function before the age of 40 years that is characterized by amenorrhoea associated with elevated gonadotropin levels. The aim of this study was to compare clinical manifestation of primary amenorrhea and secondary amenorrhea group. METHODS: This study was designed as a retrospective multicenter study of 262 women with premature ovarian failure. Sixty eight women with primary amenorrhea and 194 women with secondary amenorrhea were evaluated and hormonal level, lipid profile, bone mineral density, and pregnancy rates were compared. RESULTS: The estradiol level was markedly lower in primary amenorrhea than secondary amenorrhea. The pregnancy rate of 43.3% before the diagnosis in secondary amenorrhea was markedly higher than the rate of 0% in primary amenorrhea. The pregnancy rates after treatment was 5.9% in primary amenorrhea, but 1.0% after diagnosis and 2.8% after treatment in secondary amenorrhea. The pregnancy rate after hormonal treatment was 3.7% in total, 8.3% in primary amenorrhea, and 2.8% in secondary amenorrhea. In nine cases of pregnancy, seven cases were after estrogen-progestin (EP), one case was after clomiphene citrate and one case was after EP/human menopausal gonodotropin (hMG). And In nine cases of pregnancy, six cases resulted from oocyte donation. The prevalence of osteopenia/osteoporosis was markedly higher in primary amenorrhea than in secondary amenorrhea. CONCLUSION: Premature ovarian failure has negative influences on the physical and psychological health of young patients. Effective management should include earlier diagnosis and intensive medical intervention to relieve symptoms of estrogen deficiency and to treat long-term disease such as osteoporosis and in assisted pregnancy by oocyte donation.

A Case of Trisomy 8 Mosaicism in a Patient with Secondary Amnorreha without Abnormal Phenotype

Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare aneuploidy in humans with characteristic phenotypes including typical craniofacial feature (such as deformed skull, prominent forehead, low-set and/or dysplastic ears), skeletal malformation, cardiac anomaly, renal malformation, cryptochidism, varying degree of developemental delay. Due to the extremely variable phenotypic and cytogenetic expression, CT8M has gone undiagnosed in certain patients. We report a 28-year-old women with secondary amenorreha without characteristic CT8M phenotype. Chromosomal analysis showed a CT8M (47,XX,+8[9]/46,XX[41]).

Amenorrea secundaria-mosaicismo 45,X/46,XX fertilidad y reinicio de funcion menstrual

Objetivo: Presentación de una paciente de 17 años de edad, con un mosaicismo 45,X/46,XX que consultó por amenorrea secundaria, con posterior normalización del ciclo menstrual y fertilidad. Metodos: Historia clínica, estudios endocrinos, laparoscopia, biopsia de ovarios y estudio citogenético. Resultados: La paciente inició cambios puberales espontáneos a la edad de 11 años y menarca a los 13 años, seguida de ciclos regulares de 28 días, hasta el momento de su consulta por amenorrea secundaria de 10 meses de evolución. En el exámen físico se constató una talla de 1,48 m., peso corporal de 40 Kg, normal desarrollo de sus caractéres sexuales secundarios y ausencia de alteraciones somáticas particulares. La citología vaginal mostró predominio de células intermedias y ausencia de células superficiales. El estudio hormonal reveló una concentración sérica de LH y FSH en límites altos de la normalidad, estradiol bajo y valores normales de TSH, T4 libre, prolactina y cortisol. La prueba de estimulación con GnRH reveló una respuesta exagerada de ambas gonadotrofinas. El estudio citogenético reveló un mosaicismo 45,X/46,XX. Prueba progestacional: ausencia de sangrado por deprivación postratamienbto con medroxiprogesterona: 10 mg/día/7 días. negativa. Durante 34 meses presentó sangramientos inducidos con ciclos combinados de estrógenos + progesterona, después de lo cual presentó menstruaciones espontáneas hasta lograr embarazo a los 22 años de edad. A las 38 semanas de embarazo se realizó cesárea electiva de la cual se obtuvo un varón normal. Retorno menstrual a los 4 meses posparto con continuidad de ciclos regulares hasta su edad actual de 29 años. Conclusiones: El presente caso ilustra el amplio espectro clínico del mosaicismo 45,X/46,XX, en una paciente con diferentes grados de su función ovárica, la cual inició con una menarca normal, seguida de insuficiencia ovárica con amenorrea secundaria hipergonadotrópica y posterior reinicio de ciclos menstruales regulares y subsiguiente fertilidad.

Objective: To present a 17-year-old patient with 10-months-secondary amenorrhea, and a 45,X /46,XX mosaicism, who subsequently normalized her menstrual cycles and had spontaneous pregnancy. Methods: Data from the clinical history; endocrinological studies, laparoscopy and ovarian biopsy, and cytogenetic analysis are presented. Results: This patient presented spontaneous pubertal changes at the age of 11 years, and her menarche at 13 years of age, with regular menses every 28 days, and then she developed secondary amenorrhea of 10 months duration at 17 years of age. On physical examination she presented a height of 1,48 m., and her weight was 40 Kg. Her secondary sexual characters were normal and no particular somatic malformation were present. Vaginal cytology smear showed predominance of intermediate cells. Laboratory tests showed low serum estradiol levels, high FSH and LH serum concentration. Prolactin, free thyroxine, TSH and cortisol serum concentration were within normal range. LH and FSH values gave an exagerated response to GnRH stimulus. Cytogenetic study showed a 45,X/46,XX mosaicism. Progestational test was negative. For 34 months she presented regular menses while on combined estrogen + progesterone therapy. Thereafter she resumed spontaneous regular menses, until she became pregnant at the age of 22 years. At 38 weeks of pregnancy, caesarean section was performed and a normal male baby was obtained. Regular menses were resumed four months after delivery, and continued normaly until her present 29 years of age. Conclusions: The present case shows the wide clinical spectrum of the 45,X/46,XX mosaicism, in a patient with different levels of ovarian function, starting with a normal menarche, followed by ovarian failure and hypergonadotropic amenorrhea, and subsequent restoration of regular menstrual cycles, and fertility.