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1.
ABCS health sci ; 47: e022218, 06 abr. 2022.
Article in English | LILACS | ID: biblio-1391913

ABSTRACT

INTRODUCTION: The frequency of the premutation alleles of the FMR1 gene varies from 1:100 to 1:260 Israeli, Canadian, Finnish and American women, but it is unknown in Brazil. Premutation carriers may have reduced reproductive age and are at risk of transmitting the expanded allele to their offspring, and consequently fragile X syndrome. OBJECTIVE: To observe the distribution range of the FMR1 gene alleles in a population of women with idiopathic infertility, without symptoms of premature ovarian insufficiency. METHODS: The presence of premutation in FMR1 was assessed by conventional PCR, agarose, and acrylamide gel and analysis of fragments in capillary electrophoresis. Lymphocyte DNA obtained from 283 women undergoing infertility treatment was analyzed. RESULTS: 169 patients had the normal heterozygous allele (59.7%), 114 had the normal homozygous allele (40.6%) and no patient had the premutation. Premature ovarian insufficiency is seen in 20 to 30% of women with the permutated allele. Thus, the condition can be asymptomatic in a large part of the premutation carriers. Brazil has a diverse population and, therefore, the allele frequencies of many gene variants are unknown. Previous Brazilian studies have shown a low frequency of the premutation allele in different patient cohorts. Corroborating these articles, the results demonstrated that the frequency of the premutation allele is low in the infertile women population studied. CONCLUSION: Tracking the size of the FMR1 gene alleles allows the expansion of knowledge about the frequency of risk alleles associated with genetic diseases in the Brazilian population.


INTRODUÇÃO: A frequência dos alelos pré-mutados do gene FMR1 varia de 1:100 e 1:260 mulheres israelenses, canadenses, finlandesas e americanas, mas é desconhecida no Brasil. Portadoras da pré-mutação podem apresentar redução da idade reprodutiva e possuem risco de transmissão do alelo expandido para a prole, e consequentemente a Síndrome do X frágil. OBJETIVO: Observar a faixa de distribuição dos alelos do gene FMR1 em uma população de mulheres com infertilidade idiopática, sem sintomas de insuficiência ovariana prematura. MÉTODOS: A presença da pré-mutação em FMR1 foi avaliada por PCR convencional, gel de agarose e acrilamida e análise de fragmentos em eletroforese capilar. Analisou-se DNA de linfócitos obtidos de 283 mulheres em tratamento de infertilidade. RESULTADOS: Foi observado que 169 pacientes apresentam o alelo heterozigoto normal (59,7%), 114 apresentam o alelo homozigoto normal (40,6%) e nenhuma paciente apresentou a pré-mutação. A insuficiência ovariana prematura é observada em 20 a 30% das mulheres portadoras do alelo pré-mutado. Assim, a presença de um alelo pré-mutado pode ser assintomática em grande parte dos casos. O Brasil possui uma população diversificada e, portanto, as frequências alélicas de muitas variantes gênicas são desconhecidas. Estudos brasileiros anteriores mostraram uma baixa frequência do alelo pré-mutado em diferentes coortes de pacientes. Corroborando estes autores, os resultados demonstram que frequência do alelo pré-mutado é baixa na população de mulheres inférteis estudada. CONCLUSÃO: O rastreamento do tamanho dos alelos do gene FMR1 permite ampliar o conhecimento sobre a frequência dos alelos de risco para doenças genética na população brasileira.


Subject(s)
Humans , Female , Adult , Primary Ovarian Insufficiency , Alleles , Gene Frequency , Infertility, Female , Fragile X Syndrome , Mutation
2.
Rev. colomb. obstet. ginecol ; 73(1): 142-148, Jan.-Mar. 2022. tab
Article in Spanish | LILACS | ID: biblio-1376922

ABSTRACT

RESUMEN Objetivos: describir un caso de falla ovárica secundaria a una variante patogénica homocigota en el gen STAG3 no reportada previamente. Materiales y métodos: paciente de 16 años con amenorrea primaria y ausencia de características sexuales secundarias, en quien se documentó hipotiroidismo autoinmune, pobre desarrollo genital y cintilla gonadal, por lo cual se realizó secuenciación de exorna clínico. Se identificó una variante homocigota patogénica previamente no reportada en el gen STAG3, el cual ha sido relacionado con insuficiencia ovárica prematura (IOP). Conclusiones: en este caso, la realización de exorna clínico fue determinante para identificar una alteración del gen STAG, probablemente asociada a la IOP y el pronóstico a largo plazo de la paciente. Se establece una nueva variante patogénica c.2773delT; p.Ser925Profs*6 del gen STAG3 asociada a la IOP.


ABSTRACT Objectives: To describe a case of ovarian failure secondary to a homozygous pathogenic variant in the STAG3 gene not previously reported. Material and methods: A 16-year-old patient with primary amenorrhea and absence of secondary sexual characteristics, with documented autoimmune hypothyroidism, poor genital and gonadal streak development which prompted the performance of clinical exorne sequencing. A homozygous pathogenic variant not previously reported in the STAG3 gene, which has been associated with premature ovarian insufficiency (POI), was identified. Conclusions: In this case, clinical exorne sequencing was key for identifying a STAG gene abnormality, probably associated with POI and long term prognosis for the patient. A new pathogenic variant c.2773delT; p.Ser925Profs*6 of the STAG3 gene associated with POI was established.


Subject(s)
Humans , Female , Adolescent , Primary Ovarian Insufficiency , Gonadal Dysgenesis , Hypogonadism
3.
Femina ; 49(12): 648-657, 2021. ilus
Article in Portuguese | LILACS | ID: biblio-1358200

ABSTRACT

O transplante de medula óssea (TMO) é um procedimento indicado para o tratamento de doenças hematológicas, que afetam muitas mulheres jovens. O aperfeiçoamento dos cuidados durante o TMO proporciona altos índices de cura e de sobrevida. No entanto, pode deixar sequelas em vários órgãos e sistemas, entre eles o sistema reprodutor e os órgãos genitais, impactando negativamente a qualidade de vida das receptoras do TMO. O objetivo desta publicação foi realizar uma revisão narrativa sobre o tema e propor um protocolo assistencial que torne acessível os cuidados relacionados à saúde sexual e reprodutiva a esse grupo especial de mulheres, baseado em dados clínicos de um ambulatório de assistência ginecológica às mulheres transplantadas no Hospital Amaral Carvalho, em Jaú, no interior de São Paulo.(AU)


Bone marrow transplantation (BMT) is indicated for the treatment of hematological diseases which affect many young women. The improvement of care during BMT procedures provides higher cure and survival rates. however, it can cause sequelae in various organs and systems, including the reproductive system and genitals, negatively impacting quality of life. The purpose of this publication is to present a narrative review related to this theme and to propose a healthcare protocol that allows sexual and reproductive care in this special group of patients, based on the clinical experience of a gynecological outpatient clinic at the Amaral Carvalho Hospital, in Jaú (SP) which specifically care for these women.(AU)


Subject(s)
Humans , Female , Postoperative Complications , Bone Marrow Transplantation/adverse effects , Clinical Protocols , Risk Factors , Immunosuppression Therapy/adverse effects , Primary Ovarian Insufficiency/physiopathology , Female Urogenital Diseases/physiopathology , Graft vs Host Disease/physiopathology
4.
Article in Chinese | WPRIM | ID: wpr-887475

ABSTRACT

OBJECTIVE@#To compare the efficacy between acupuncture-moxibustion treatment by stages and femoston for premature ovarian insufficiency (POI).@*METHODS@#A total of 66 patients with POI were randomly divided into an observation group (33 cases, 3 cases dropped off) and a control group (33 cases, 2 cases dropped off). The patients in the observation group, based on the theory of "transformation of @*RESULTS@#Compared before treatment, the serum levels of FSH and LH were decreased (@*CONCLUSION@#Acupuncture- moxibustion treatment by stages based on the theory of "transformation of


Subject(s)
Acupuncture Points , Acupuncture Therapy , Female , Follicle Stimulating Hormone , Humans , Moxibustion , Primary Ovarian Insufficiency/therapy
5.
Article in Chinese | WPRIM | ID: wpr-879582

ABSTRACT

OBJECTIVE@#To explore the correlation between Fragile X mental retardation gene-1 (FMR1) gene CGG repeats with diminished ovarian reserve (DOR).@*METHODS@#For 214 females diagnosed with DOR, DNA was extracted from peripheral blood samples. FMR1 gene CGG repeats were determined by PCR and capillary electrophoresis.@*RESULTS@#Three DOR patients were found to carry FMR1 premutations, and one patient was found to carry gray zone FMR1 repeats. After genetic counseling, one patient and the sister of another patient, both carrying FMR1 permutations, conceived naturally. Prenatal diagnosis showed that both fetuses have carried FMR1 permutations.@*CONCLUSION@#FMR1 gene permutation may be associated with DOR. Determination of FMR1 gene CGG repeats in DOR patients can provide a basis for genetic counseling and guidance for reproduction.


Subject(s)
Female , Fragile X Mental Retardation Protein/metabolism , Fragile X Syndrome/genetics , Humans , Ovarian Diseases , Ovarian Reserve/genetics , Primary Ovarian Insufficiency/genetics , Trinucleotide Repeats/genetics
6.
Article in English | WPRIM | ID: wpr-922755

ABSTRACT

Chitooligosaccharide-zinc (COS·Zn) is a powerful anti-oxidant and anti-aging scavenger, whose anti-oxidative ability immensely exceeds vitamin C. Therefore, this study was aimed to investigate the protective effects of COS·Zn against premature ovarian failure (POF) and potential mechanisms. Female KM adult mice were divided into the following groups: a treatment group (150 mg·kg


Subject(s)
Animals , Chitosan , Female , Humans , Mice , NF-E2-Related Factor 2/genetics , Nuclear Proteins , Oligosaccharides , Primary Ovarian Insufficiency/drug therapy , Signal Transduction , Zinc
7.
Article in Chinese | WPRIM | ID: wpr-877605

ABSTRACT

OBJECTIVE@#To observe the influence of regulating menstruation and promoting pregnancy acupuncture therapy on negative emotions in patients with premature ovarian insufficiency (POI).@*METHODS@#A total of 60 patients with POI were randomly divided into an acupuncture group and a western medication group, 30 cases in each group. The acupuncture group was treated with regulating menstruation and promoting pregnancy acupuncture therapy at Baihui (GV 20), Shenting (GV 24), Guanyuan (CV 4), Sanyinjiao (SP 6), Shenshu (BL 23), Ciliao (BL 32), etc. once a day, 5 times a week for 3 months. The western medication group was treated by oral administration of climen. The drug was given 1 tablet a day for 21 days and was stopped for 1 week as a course. The treatment was required 3 consecutive courses. The self-rating anxiety scale (SAS) score, modified Kupperman index (KI) score, agitated and depressive symptom scores in KI and serum level of follicle stimulating hormone (FSH) before and after treatment were compared between the two groups.@*RESULTS@#After treatment, the SAS scores, KI scores and serum levels of FSH in the two groups and the scores of agitated and depressive symptom in the acupuncture group were lower than those before treatment (@*CONCLUSION@#Regulating menstruation and promoting pregnancy acupuncture therapy can effectively improve the negative emotions of patients with POI and reduce serum level of FSH .


Subject(s)
Acupuncture Points , Acupuncture Therapy , Female , Follicle Stimulating Hormone , Humans , Menstruation , Pregnancy , Primary Ovarian Insufficiency/therapy
9.
Article in Chinese | WPRIM | ID: wpr-878867

ABSTRACT

The aim of this paper was to study the role of phosphoinositide 3-kinase(PI3 K), protein kinase B(Akt) and mamma-lian target of rapamycin(mTOR) in the inhibition of premature ovarian failure induced by D-galactose(D-gal) in mice model by ginsenoside Rg_1(Rg_1). Fifty-four female SPF BALB/c mice were randomly divided into PBS group, D-gal group, and Rg_1 group. In the D-gal group, D-galactose(200 mg·kg~(-1)·d~(-1)) was injected subcutaneously into the neck and back for 42 days. In the PBS group, an equal amount of phosphate buffered saline(PBS) was injected into the neck and back for 42 days. In addition to the therapy of D-gal group, Rg_1 group was given Rg_1(20 mg·kg~(-1)·d~(-1)) through intraperitoneal injection since the 15 th day for 28 days, at the same time, the D-gal group and the PBS group were also given an equal amount of PBS through intraperitoneal injection since the 15 th day for 28 days. After the treatment, the estrous cycle changes of the mice were detected, and the ovarian SA-β-Gal staining was used to detect the changes of ovarian aging. Western blot was used to detect the changes in protein expressions of PI3 K, Akt, mTOR, S6 k, LC3-Ⅱ and P16~(INK4 a). Fluorescence quantitative PCR was used to detect the changes in mRNA expressions of PI3 K, Akt, mTOR, S6 k, LC3-Ⅱ and P16~(INK4 a). According to the findings, compared with the PBS group, the D-gal group began to show estrous cycle disorder in the 3 rd week,the ovarian SA-β-Gal staining positive granulosa cells increased in the D-gal group, the expression of senescence marker P16~(INK4 a) increased, while the expression of autophagy signaling molecule LC3-Ⅱ decreased. After treatment with Rg_1, the positive rate of ovarian SA-β-Gal staining in Rg_1 group decreased, the expression level of autophagy signaling molecule LC3-Ⅱ in Rg_1 group was higher than that in D-gal group, while the expression level of senescence marker P16~(INK4 a) was lower than that in D-gal group. Compared with the PBS group, the protein and mRNA expressions of PI3 K, Akt, mTOR and S6 k in the D-gal group were up-regulated, the protein expressions of Akt, mTOR and S6 k in the Rg_1 group were up-regulated, and the mRNA expressions of PI3 K and mTOR were up-regulated. After treatment with Rg_1, the protein expressions of PI3 K, Akt, mTOR and S6 k in the Rg_1 group were lower than those in the D-gal group, while the mRNA expressions of Akt, mTOR and S6 k in the Rg_1 group were lower than those in the D-gal group. The finding ssuggested that Rg_1 has the effect in delaying ovarian premature failure in D-gal-induced mouse models, and PI3 K/Akt/mTOR autophagy signaling pathways play an important role.


Subject(s)
Animals , Autophagy , Female , Ginsenosides , Humans , Mice , Mice, Inbred BALB C , Phosphatidylinositol 3-Kinases , Primary Ovarian Insufficiency , Proto-Oncogene Proteins c-akt , TOR Serine-Threonine Kinases
10.
Rev. chil. endocrinol. diabetes ; 13(3): 102-104, 2020.
Article in Spanish | LILACS | ID: biblio-1116921

ABSTRACT

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.


Subject(s)
Humans , Female , Adult , Chromosome Aberrations , Primary Ovarian Insufficiency/genetics , Amenorrhea/genetics , Translocation, Genetic , Karyotype
11.
Rev. chil. obstet. ginecol. (En línea) ; 84(5): 416-422, oct. 2019. tab, ilus
Article in Spanish | LILACS | ID: biblio-1058169

ABSTRACT

RESUMEN La Insuficiencia Ovárica Primaria se define por una amenorrea secundaria de al menos cuatro meses de duración, deficiencia de esteroides sexuales (estradiol) y altas concentraciones séricas de hormona folículoestimulante (FSH) con al menos un mes de diferencia entre estas determinaciones, en mujeres menores de 40 años. Es una causa insidiosa de infertilidad pero en algunas ocasiones es transitoria y permite una gestación espontánea. El Síndrome de Turner es un trastorno genético caracterizado por la pérdida o anomalías estructurales de un cromosoma X y que afecta a 1 de cada 2.500 mujeres nacidas vivas. Las manifestaciones clínicas varían entre pacientes, pero generalmente se relaciona con talla baja, coartación aórtica, disgenesia gonadal e insuficiencia ovárica primaria. Las técnicas de reproducción asistida como la criopreservación de ovocitos y de tejido ovárico, la maduración in vitro o la donación de ovocitos ofrecen opciones reproductivas en aquellos casos en los que no se produzca un embarazo espontáneo.


ABSTRACT Primary Ovarian Insufficiency is considered a secondary amenorrhea of at least four months duration, sex steroid deficiency (estradiol) and high serum concentrations of follicle stimulating hormone (FSH) with at least one month difference between these determinations, in women under 40 years. It is an insidious cause of infertility but sometimes it is transient and allows a spontaneous pregnancy. Turner syndrome is a genetic disorder characterized by the loss or structural abnormalities of an X chromosome that affects 1 in 2,500 women born alive. Clinical manifestations vary among patients, but it is usually associated with short stature, aortic coarctation, gonadal dysgenesis, and primary ovarian failure. Assisted reproduction techniques such as cryopreservation of oocytes and ovarian tissue, in vitro maturation or oocyte donation offer reproductive options in those cases in which there is no spontaneous pregnancy.


Subject(s)
Humans , Female , Pregnancy , Adult , Turner Syndrome/etiology , Primary Ovarian Insufficiency/etiology , Turner Syndrome/diagnosis , Turner Syndrome/therapy , Reproductive Techniques , Fertility , Fertility Preservation/methods
12.
Arch. argent. pediatr ; 117(3): 257-262, jun. 2019. tab
Article in Spanish | LILACS, BINACIS | ID: biblio-1001198

ABSTRACT

El síndrome de fragilidad del cromosoma X es la causa de discapacidad intelectual heredable más frecuente. Asociado a trastornos del espectro autista en un tercio de los pacientes, afecta, con mayor prevalencia, a los varones. Se debe a una expansión de trinucleótidos CGG (citosina, guanina, guanina), llamada mutación completa en el locus Xq27.3 del gen FMR1, que conduce a la hipermetilación en el promotor del gen y reduce los niveles de expresión de FMRP, una proteína implicada en la maduración y plasticidad sináptica. Una expansión menor de CGG es la causa de insuficiencia ovárica primaria y del síndrome de temblor/ataxia asociado a X frágil, caracterizado por ataxia cerebelosa progresiva, de inicio tardío, y temblor de intención. En el presente estudio de serie de casos, se analiza la segregación de mutaciones del gen FMR1 en diferentes familias y la variabilidad de expresión clínica que llevó a la consulta genética.


The fragile X syndrome occurs due to an expansion of CGG trinucleotides, called full mutation, which is found at the Xq27.3 locus of the FMR1 gene. It is the most common cause of inherited intellectual disability. Associated with autistic spectrum disorders in one third of the patients, it affects males with higher prevalence. It also leads to hypermethylation of the gene promoter, silencing it and reducing the expression levels of FMRP, a protein involved in synaptic maturation and plasticity. A lower expansion causes primary ovarian failure syndrome as well as tremor and ataxia syndrome characterized by progressive cerebellar ataxia of late onset and intention tremor. In the present case-control study we analyze the segregation of mutations of the FMR1 gene in different families and the variability of expression that led to the genetic consultation.


Subject(s)
Humans , Child, Preschool , Child , Adolescent , Adult , Ataxia , Primary Ovarian Insufficiency , Fragile X Syndrome , Intellectual Disability
13.
Rev. argent. endocrinol. metab ; 56(1): 20-29, mar. 2019.
Article in Spanish | LILACS | ID: biblio-1041756

ABSTRACT

RESUMEN La insuficiencia ovárica prematura es la pérdida de la función ovárica antes de los 40 años de edad. Se caracteriza por hipogonadismo hipergonadotrófico y amenorrea u oligomenorrea. Su etiología es multifactorial, pudiendo deberse a causas iatrogénicas, genéticas, metabólicas, autoinmunes y ambientales; siendo de origen idiopático en el 90 % de los casos. Su incidencia es de 1 cada 100 mujeres menores de 40 años y 1 cada 1000 mujeres menores de 30 años. En la actualidad no existe un único marcador que se pueda utilizar para calcular la reserva ovárica; sin embargo, en los últimos años la hormona antimülleriana ha demostrado presentar algunas ventajas respecto a los biomarcadores clásicamente utilizados. Además, diversos estudios indican que existe una correlación positiva entre los niveles de esta hormona y el recuento de folículos antrales, que es, por el momento, el método más confiable para evaluar reserva ovárica debido a las actuales dificultades técnicas para la determinación de hormona antimülleriana.


ABSTRACT Premature ovarian insufficiency, the loss of ovarian function before the age of 40 years, is characterized by hipergonadotrofic hipogonadism and amenorrhea or oligomenorrhea. The etiology is multifactorial, and can be due to genetic, metabolic, autoimmune, environmental or iatrogenic causes, being idiopathic 90% of cases. Currently there is not a single marker that can be used for estimate ovarian reserve in this patients; however, in recent years antimüllerian hormone has proved to have some advantages over other classical biomarkers. Moreover, several studies indicate a positive correlation between antimüllerian hormone concentration and antral follicle count, considered nowadays the most reliable method for ovarian reserve estimation.


Subject(s)
Humans , Female , Primary Ovarian Insufficiency/diagnosis , Primary Ovarian Insufficiency/etiology , Biomarkers , Anti-Mullerian Hormone/physiology , Ovarian Reserve
14.
Rev. Assoc. Med. Bras. (1992) ; 65(3): 419-423, Mar. 2019. tab, graf
Article in English | LILACS | ID: biblio-1003048

ABSTRACT

SUMMARY Premature Ovarian Insufficiency is defined as a decline in ovarian function that is accompanied by two biochemical determinations of Follicle Stimulating Hormone in hypergonadotropic values, in addition to low levels of circulating estrogens in women under 40 years old. Although some of its possible etiologies are recognized and diagnosed, most of the time, its cause remains unknown. It is a pathology with medical, psychological, and reproductive implications. Patients may experience climacteric symptoms, infertility, and emotional distress. In the medium and long term, cardiovascular and bone health can be affected, and some degree of cognitive deterioration can be evidenced. The therapeutic approach needs to be comprehensive for the patient and multidisciplinary. SAEGRE created in Argentina an interhospital network dedicated to gathering relevant statistical information regarding this and other pathologies in order to provide better assistance for these patients.


RESUMO Insuficiência ovariana primária é definida como um declínio da função ovariana acompanhado por dois determinantes bioquímicos do Hormônio Folículo Estimulante em valores hipergonadotróficos, além de baixos níveis de estrogênios circulantes em mulheres com menos de 40 anos de idade. Embora algumas das suas possíveis etiologias serem reconhecidas e diagnosticadas, na maioria das vezes sua causa permanece desconhecida. Trata-se de patologia com a implicações médicas, psicológicas e reprodutivas. Os pacientes podem vivenciar sintomas climatéricos, infertilidade e problemas emocionais. A médio e longo prazo, a saúde cardiovascular e óssea pode ser afetada, e algum grau de deterioração cognitiva pode ser observado. A abordagem terapêutica precisa ser abrangente para o paciente e multidisciplinar. A SAEGRE criou na Argentina uma rede interospitalar dedicada a reunir informações estatísticas relevantes sobre esta e outras patologias, a fim de proporcionar uma melhor assistência para esses pacientes.


Subject(s)
Humans , Female , Adult , Primary Ovarian Insufficiency/epidemiology , Argentina/epidemiology , Menopause/physiology , Comorbidity , Risk Factors , Primary Ovarian Insufficiency/etiology , Fertility/physiology , Menstrual Cycle/physiology
15.
Experimental Neurobiology ; : 119-129, 2019.
Article in English | WPRIM | ID: wpr-739526

ABSTRACT

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder caused by mutations in the tyrosine kinase domain of the CSF1R gene. ALSP is often misdiagnosed as other diseases due to its rarity and various clinical presentations such as Parkinsonism, pyramidal signs, cognitive impairment and/or psychiatric symptoms. We describe an autopsy case of ALSP with a CSF1R mutation. A 61-year-old woman presented insidious-onset gait difficulty for 12 years since her age of 49, and premature ovarian failure since her age of 35. At initial hospital visit, brain magnetic resonance imaging revealed hydrocephalus. Initially, Parkinson's syndrome was diagnosed, and she was prescribed L-dopa/carbidopa because of spasticity and rigidity of extremities, which had worsened. Subsequently, severe neuropsychiatric symptoms and cognitive impairment developed and radiologically, features of leukoencephalopathy or leukodystrophy were detected. She showed a down-hill course and died, 12 years after initial diagnosis. At autopsy, the brain showed severe symmetric atrophy of bilateral white matter, paper-thin corpus callosum, thin internal capsule, and marked hydrocephalus. Microscopically, diffuse loss of white matter, relatively preserved subcortical U-fibers, and many eosinophilic bulbous neuroaxonal spheroids were noted, but there was no calcification. Pigmented glia with brown cytoplasmic pigmentation were readily found in the white matter, which were positive for Periodic acid-Schiff, p62, and CD163 stains, but almost negative for CD68. Whole-exome and Sanger sequencing revealed a CSF1R mutation (c.2539G>A, p.Glu847Lys) which was reported in prior one ALSP case. This example demonstrates that ALSP could be associated with premature ovarian failure.


Subject(s)
Atrophy , Autopsy , Axons , Brain , Cognition Disorders , Coloring Agents , Corpus Callosum , Cytoplasm , Diagnosis , Eosinophils , Extremities , Female , Gait , Humans , Hydrocephalus , Internal Capsule , Leukoencephalopathies , Magnetic Resonance Imaging , Middle Aged , Muscle Spasticity , Neuroglia , Parkinsonian Disorders , Pigmentation , Primary Ovarian Insufficiency , Protein-Tyrosine Kinases , White Matter
16.
Article in Chinese | WPRIM | ID: wpr-773150

ABSTRACT

To establish a mouse model of premature ovarian insufficiency( POI) with kidney deficiency and blood stasis pattern by Tripterygium wilfordii polyglycoside( TWP) gavage,and to evaluate the ovarian function and fertility of the model,in order to find Bushen Culuan Decoction therapeutic mechanism. 60 SPF level Blab/c female mice with normal estrous cycle were randomly divided into 6 groups of 10 each: blank group 1( BG1),blank group 2( BG2),blank fertility group( BFG),model group( MG),model recovery group( MRG) and model fertility group( MFG). The mice in three model groups were treated by gastric gavage with TWP suspension 40 mg·kg-1 twice a day for 14 days,while the mice in three blank groups were treated by gastric gavage with same volume normal saline for 14 days. The mice in BG1 and MG were sacrificed and dissected on day 15. The mice in BG2,BFG,MRG and MFG were returned normal feeding from day 15 and were sacrificed and dissected on day 29. The mice in BFG and MFG were cohabited with male mice with a ratio of 2 ∶1( female ∶male) from day 15. The general situation and estrous cycles of all mice were observed every day. Serum sex hormone levels,ovarian index,uterine index,ovarian morphology,follicle count,ovarian VEGF and ES index were observed within the mice in BG1,BG2,MG and MRG. Pregnancy rate,litter size,survival number of newborn mice and male-female proportion were reported within the mice in BFG and MFG. In model establishing stage,the body weight of mice significantly decreased( P <0. 05) in MG and MFG. Compared with BG1,the mice in model group had irregular estrous cycle,decreased ovarian and uterine indexes,less primordial and developing follicles,more atretic follicles,increased VEGF expression and decreased ES expression( P <0. 05). Compared with blank group 2,the mice in model recovery group had irregular estrous cycle,increased FSH level,decreased ovarian indexes,less primordial and developing follicles,more atretic follicles,increased VEGF expression( P<0. 05). Compared with blank fertility group,the mice in model fertility group had smaller litter size and newborn mice survival count( P<0. 05). Gastric gavage with TWP 40 mg·kg-1 twice a day for 14 days is a feasible way to establish a POI kidney deficiency and blood stasis pattern mouse model. The mice ovarian functions didn't recovery on day 14 after stopping TWP intervening,which could suggest the effectiveness of subsequent therapeutic intervention.


Subject(s)
Animals , Disease Models, Animal , Drugs, Chinese Herbal , Pharmacology , Female , Mice , Mice, Inbred BALB C , Pregnancy , Primary Ovarian Insufficiency , Drug Therapy , Random Allocation , Tripterygium
17.
Article in English | WPRIM | ID: wpr-763358

ABSTRACT

Primordial follicle activation is a process in which individual primordial follicles leave their dormant state and enter a growth phase. While existing hormone stimulation strategies targeted the growing follicles, the remaining dormant primordial follicles were ruled out from clinical use. Recently, in vitro activation (IVA), which is a method for controlling primordial follicle activation, has provided an innovative technology for primary ovarian insufficiency (POI) patients. IVA was developed based on Hippo signaling and phosphatase and tensin homolog (PTEN)/phosphatidylinositol-3-kinase (PI3K)/protein kinase B (AKT)/forkhead box O3 (FOXO3) signaling modulation. With this method, dormant primordial follicles are activated to enter growth phase and developed into competent oocytes. IVA has been successfully applied in POI patients who only have a few remaining remnant primordial follicles in the ovary, and healthy pregnancies and deliveries have been reported. IVA may also provide a promising option for fertility preservation in cancer patients and prepubertal girls whose fertility preservation choices are limited to tissue cryopreservation. Here, we review the basic mechanisms, translational studies, and current clinical results for IVA. Limitations and further study requirements that could potentially optimize IVA for future use will also be discussed.


Subject(s)
Cryopreservation , Female , Fertility Preservation , Humans , In Vitro Techniques , Methods , Oocytes , Ovarian Follicle , Ovary , Phosphotransferases , Pregnancy , Primary Ovarian Insufficiency
18.
Article in English | WPRIM | ID: wpr-763351

ABSTRACT

With the progress of regenerative medicine, mesenchymal stem cells (MSCs) have received attention as a way to restore ovarian function. It has been reported that MSCs derived from bone marrow, adipose, umbilical cord blood, menstrual blood, and amniotic fluid improved ovarian function. In light of previous studies and advances in this field, there are increased expectations regarding the utilization of MSCs to restore ovarian function. This review summarizes recent research into potential applications of MSCs in women with infertility or primary ovarian insufficiency, including cases where these conditions are induced by anticancer therapy.


Subject(s)
Amniotic Fluid , Bone Marrow , Female , Fetal Blood , Humans , Infertility , Mesenchymal Stem Cells , Primary Ovarian Insufficiency , Regenerative Medicine
19.
Chinese Acupuncture & Moxibustion ; (12): 1181-1184, 2019.
Article in Chinese | WPRIM | ID: wpr-776191

ABSTRACT

OBJECTIVE@#To explore the clinical effect of acupuncture and the potential effect mechanism in patients with premature ovarian failure.@*METHODS@#A total of 104 patients with premature ovarian failure were randomized into an acupuncture group and a western medication group, 52 cases in each one. In the western medication group, the conjugated estrogens tablets were prescribed for oral administration, 0.625 mg each time, once a day, consecutively for 21 days. On the 16th day of medication with conjugated estrogens tablets, the oral administration of medroxyprogesterone acetate tablets were supplemented, 10 mg each time, once a day, consecutively for 5 days, and then, these two kinds of western medication were discontinued for 1 week. A total of 3 cycles were required in treatment with 28 days as an artificial cycle. In the acupuncture group, acupuncture was applied. Two groups of acupoints were selected. The first group of acupoints were stimulated before ovulation and the acupoints were Guanyuan (CV 4), Guilai (ST 29), Taichong (LR 3), Taixi (KI 3), Xuehai (SP 10), Sanyinjiao (SP 6), Zigong (EX-CA 1), Yinlingquan (SP 9), Zusanli (ST 36), Shuidao (ST 28), Dahe (KI 12) and Tianshu (ST 25). The second group of acupoints were stimulated after ovulation and the acupoints included Ciliao (BL 32), Shiqizhui (EX-B 8), Ganshu (BL 18), Shenshu (BL 23), Geshu (BL 17) and Pishu (BL 20). The therapeutic effect was observed and compared in the patients between the two groups, as well as the expressions of interferon-γ (IFN-γ) and tumor necrosis factor-α (TNF-α) and the levels of serum luteinizing hormone (LH), follicule stimulating hormone (FSH) and estradiol (E) before and after treatment.@*RESULTS@#The total effective rate was 90.4% (47/52) in the acupuncture group, higher than 67.3% (35/62) in the western medication group (<0.05). After treatment, the expressions of IFN-γ and TNF-α in the acupuncture group were obviously lower than the western medication group (<0.05). Except for serum LH after treatment, at the end of treatment and in 30 days and 90 days after treatment, the levels of serum E in the acupuncture group were higher obviously than the western medication group and the levels of serum LH and FSH were lower obviously than the western medication group (all <0.05).@*CONCLUSION@#Acupuncture promotes the regular menstruation, effectively regulates the levels of serum LH, FSH and E and improves the pituitary gland and the ovary endocrine in the patients with premature ovarian failure. Such effect may be related to the the improvements in the expressions of IFN-γ and TNF-α, the inhibition of the apoptosis of ovarian granulosa cells, the recovery of ovarian function and the enhancement of reserve capacity.


Subject(s)
Acupuncture Points , Acupuncture Therapy , Female , Humans , Interferon-gamma , Blood , Primary Ovarian Insufficiency , Blood , Therapeutics , Tumor Necrosis Factor-alpha , Blood
20.
Article in Chinese | WPRIM | ID: wpr-775864

ABSTRACT

OBJECTIVE@#To observe the clinical efficacy of " acupuncture" and oral estradiol and dydrogesterone tablets (femoston) on premature ovarian insufficiency of kidney deficiency.@*METHODS@#A total of 50 patients with premature ovarian insufficiency of kidney deficiency were randomized into an observation group and a control group, 25 cases in each one.In the observation group, " acupuncture" was applied at Baihui (GV 20), Zhongwan (CV 12), Guanyuan (CV 4), Qihai (CV 6), Zhongji (CV 3), Yaoyangguan (GV 3), Yaoshu (GV 2), Mingmen (GV 4), etc. once every 2 days, 1 month as a course. In the control group, femoston was prescribed for oral administration, one tablet per time, once a day, 1 month as a course. Both of the two groups were given consecutive treatment for 3 courses. Before and after treatment, the clinical symptoms, menstrual improvement as well as the changes of estradiol (E), luteotrophic hormone (LH) and follicle-stimulating hormone (FSH) in serum were observed in the two groups.@*RESULTS@#After treatment, the clinical symptoms and menstrual conditions were improved (<0.01), the levels of FSH and LH were significantly reduced (<0.01), and the levels of E were significantly increased in the two groups (<0.01). There were no significant difference in menstrual improvement rate and menstrual improvement time between the observation group and the control group (<0.05), the recurrence rate of menopause and clinical symptom score improvement in the observation group were superior to the control group (<0.05). In the observation group, the level of E in serum was lower and the levels of FSH and LH in serum were significantly lower than those in the control group (<0.05, <0.01). In the observation group, the rate of adverse reaction was 4.0% (1/25), which was lower than 36.0% (9/25) in the control group (<0.05).@*CONCLUSION@#" acupuncture" has better therapeutic effect for premature ovarian insufficiency of kidney deficiency. It is superior to femoston in improving clinical symptoms and recurrence rate of menopause as well as reducing the levels of FSH and LH.


Subject(s)
Acupuncture Points , Acupuncture Therapy , Female , Follicle Stimulating Hormone , Humans , Kidney Diseases , Therapeutics , Primary Ovarian Insufficiency , Therapeutics
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