Orientadores: Cristina Laguna Benetti Pinto, Paulo César Giraldo / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-23T02:18:45Z (GMT). No. of bitstreams: 1 Pacello_PolianaCordeiroCesar_M.pdf: 630399 bytes, checksum: 3a17ca972fbf7042258cf286d9d756d3 (MD5) Previous issue date: 2013 / Resumo: Introdução: Em mulheres com falência ovariana prematura (FOP) em uso de terapia hormonal (TH) os aspectos microbiológicos e funcionais da mucosa vaginal e sua relação com a função sexual (FS) não está clara. Não está claro também se a FS em mulheres com FOP está mais relacionada a questões emocionais ou a problemas orgânicos. Objetivo: Avaliar a função sexual em mulheres com FOP em uso de TH e correlacioná-la com algumas características da mucosa vaginal de mulheres. Identificar o escore de lubrificação e dor no ato sexual e relacioná-los com as características da mucosa vaginal. Desenho do estudo: Corte transversal com 36 mulheres com FOP em uso de TH, acompanhadas no Ambulatório de Ginecologia Endócrina do Departamento de Tocoginecologia da Faculdade de Ciências Médicas da Universidade Estadual de Campinas, pareadas por idade (± 2 anos) com 36 mulheres com função gonadal normal; todas sexualmente ativas e referindo pelo menos uma relação sexual no último mês. Avaliou-se função sexual através do questionário Female Sexual Function Index (FSFI), o trofismo vaginal através da citologia hormonal vaginal, pH e escore vaginal e a flora vaginal através do teste de amina, bacterioscopia e cultura de fungo. Resultados: As mulheres pareadas por idade apresentaram no grupo FOP 33,8 ± 6,1 anos e controles 34,9 ±6,1 anos e tinham relacionamento conjugal estável (91,7% e 97,2% para FOP e controle, respectivamente). O FSFI mostrou escore total para o grupo FOP e controles, respectivamente, de 21,3 ± 6,3 vs. 27,9 ± 3,4 (p<0,0001), com pior desempenho sexual na presença da falência gonadal. Também se observou diferença significativa, com mais dor e pior lubrificação, no grupo com FOP do que nos controles. O escore vaginal mostrou pior trofismo da mucosa vaginal no grupo FOP (20,8 ± 3,5) em relação ao controle (23,4 ± 1,8), p<0,0001. O estudo de citologia hormonal e do pH vaginal não evidenciou diferenças. Da mesma forma, a flora vaginal, o teste de amina, a bacterioscopia e a cultura de fungo foram semelhantes nos dois grupos. . O escore vaginal não apresentou correlação direta ou indireta com os domínios dor e lubrificação ou escore total no questionário FSFI. Conclusão: Mulheres com FOP em uso de TH apresentaram aspectos microbiológicos e funcionais normais, com exceção do escore vaginal, além de pior FS do que mulheres de mesma idade na menacme. Estes achados sugerem que o uso de estrógeno sistêmico em mulheres com FOP não foi suficiente para melhorar a lubrificação e a dispareunia, apesar de conferir trofismo e flora vaginais normais indicando a necessidade de terapêutica sexual específica / Abstract: Introduction: In women with Premature Ovarian Failure (POF) using hormonal therapy (HT) the microbiologycal and functional aspects of the vaginal mucosa and its relationship with sexual function (SF) is not clear. It is also unclear if SF in women with POF is more related to issues in emotional or physical problems. Objective: To evaluate SF in women with POF using HT and to correlate to some characteristics of the vaginal mucosa. To identify the lubrication and pain score during the intercourse and to correlate with the vaginal mucosa characteristics. Study design: Matched cross-sectional study between 36 women with POF and 36 women of the same age (± 2 years) with normal ovarian function, accompanied by the Endocrine Gynecology Clinic, Department of Obstetrics and Gynecology, School of Medical Sciences at the State University of Campinas. Women were sexually active and had at least one sexual intercourse in the last month. Sexual function was assessed using the Female Sexual Function Index questionnaire (FSFI). The trophism was determined by vaginal hormonal cytology, pH and vaginal health index. The vaginal flora was identified by amine test, bacterioscopy and culture for fungi. Results: Women showed a similar age - in the POF group were 33.8 ± 6.1 years and in the control group were 34.9 ± 6.1 (p=0.296) - and had stable marital status (91.7% and 97.2% respectively for POF and control, p = ns). The sexual function of women with POF resulted in the total score of 21.3 ± 6.3 vs. 27.9 ± 3.4 for control group (p<0.0001). The vaginal health index showed better trophism in the control group than in the POF group (23.4 ± 1.8 vs 20.8 ± 3.5, p < 0.0001), both with trophic scores. There was more pain and poorer lubrication in the group with POF than in controls. The study of the vaginal hormonal cytology and vaginal pH showed no differences. Likewise the vaginal flora, the amine test, the bacterioscopy and culture for fungi were similar in both groups. The vaginal health index did not correlated directly or indirectly to the domains of pain and lubricating or FSFI total score on the questionnaire. Conclusion: There were no changes in the vaginal mucosa of women with POF in use of hormonal therapy to justify the worse lubrication or higher prevalence of pain during intercourse. These findings sugest that the use of systemic estrogen in women with POF is not enough to improve lubrication and to decrease pain despite conferring similar trophism and vaginal flora, which suggests the need of specific sexual therapeutic approach / Mestrado / Fisiopatologia Ginecológica / Mestra em Ciências da Saúde

Les données bibliographiques décrivent un nombre croissant de modèles murins caractérisés sur le plan de la fertilité permettant une meilleure compréhension du phénomène de la croissance folliculaire. Certains de ces modèles animaux, invalidés pour des facteurs de transcription reproduisent un phénotype d’infertilité, telle que l’insuffisance ovarienne primaire (IOP). La compréhension des mécanismes moléculaires des facteurs de transcription essentiels à la fonction ovarienne n’est pas clairement établie. Les protéines contenant des domaines liant l’ADN, tels que les homéodomaines ou les domaines forkhead jouent un rôle-Clé dans le développement ovarien. NOBOX (Newborn Ovary Homeobox) est un facteur de transcription essentiel à la mise en place du stock folliculaire, et dont les mutations sont responsables d’IOP. La fonction exacte de NOBOX n’est pas connue, s’il est présent dans l’ovocyte, nous montrons pour la première fois une forte expression de cette protéine dans les cellules de la granulosa des follicules primordiaux jusqu’au stade secondaire. De plus, par différentes techniques moléculaires, nous mettons en évidence une interaction entre NOBOX et un autre acteur important de la folliculogenèse FOXL2 (Forkhead box l2), contribuant à la régulation de leurs gènes cibles respectifs. Cette étude permet de mettre en lumière le rôle de NOBOX dans les cellules de granulosa. L’IOP est une pathologie touchant 1 % des femmes âgées de moins de 40 ans. Sur le plan ovarien, il y a une déplétion du stock des follicules ou un blocage de la maturation folliculaire. De ce fait, la stérilité est le plus souvent définitive. Une origine génétique de cette maladie est parfois retrouvée avec des mutations des autosomes et/ou du chromosome X, mais dans plus de 80% des cas l’IOP est idiopathique. L’enjeu est donc d’identifier de nouveaux gènes candidats pour cette pathologie. Dans cette étude nous validons la prévalence des mutations du gène NOBOX faisant de ce facteur un des gènes clés de l’IOP. Puis, à l’aide d’une nouvelle technologie : le séquençage multiplex par puces PGMTM ION TORRENT, nous mettons en évidence dans 26% de la cohorte étudiée (100 femmes atteintes d’IOP sporadique primaire ou secondaire) un défaut génétique de 10 gènes, dont 4 nouveaux candidats à l’IOP. De façon intéressante, la présence d’au moins deux gènes mutés chez 9 patientes induit un phénotype plus précoce. Cette étude contribue à une meilleure compréhension de l’origine génétique de l’IOP et met pour la première fois en évidence le phénomène d’oligogénisme chez des patientes en IOP. / Single germline mutations found in women with primary ovarian insufficiency (POI), besides mouse models have provided substantial understanding into the factors involved in differentiation and ovarian development. POI is characterized by amenorrhea with elevated gonadotropin levels, and affects 1% of women before the age of 40 years.Several transcription factors involved in ovary development and folliculogenesis are mutated in reproductive disorders. We have shown a high prevalence of POI cases harboring mutations in the Newborn oogenesis homeobox (NOBOX) gene, which encodes a homeodomain-Containing transcription factor expressed preferentially in oocyte. NOBOX plays a critical role in early folliculogenesis and its absence leads to sterility. In addition to its oocyte localization, we show here that NOBOX is also expressed in granulosa cells (GCs), those surrounding the germ cell. Since NOBOX and FOXL2, a master regulator of GC development (belonging to forkhead family), are co-Expressed in GCs. Here, using several molecular approaches, we have demonstrated that NOBOX and FOXL2 indeed physically interact leading to a down-Regulation of their transactivation capacity. Altogether, these observations highlight a novel role for NOBOX in interaction with FOXL2, and suggest that they may be antagonistic transcription regulators. POI encompasses a heterogeneous spectrum of conditions, through two major mechanisms, follicle dysfunction and follicle depletion. Genetic component such as X chromosome abnormalities, deletions, FMR1 premutations, BMP15 variants, were identified as the first genetic causes of the pathophysiology. Today, the genetic origin of POI is supported by the existence of monogenic forms in humans and animal models but the relevance of several loci for POI pathogenesis should not be ruled out. By means of a next-Generation sequencing , a multiplex (PGM-Ion Torrent technology) sequencing of 19 genes was undertaken in a cohort of 100 nonsyndromic women with POI. In 26 patients, we reported 10 gene defects, among them, missense mutations in 4 new candidates were detected. Our aggregate data suggest that point mutations in these candidate genes are causative of the disease by prediction analysis assays. Two to three gene defects can synergize to produce a more severe phenotype in POI patients than either alone. This study identifies for the first time in a large proportion of POI patients specific sets of germline mutations that, together, may account for this disease. Thus, oligogenicity also has implications for genetic counseling regarding POI.

Orientadores: Cristina Laguna Benetti Pinto, Rose Luce Gomes do Amaral / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-28T09:13:50Z (GMT). No. of bitstreams: 1 GiraldoSouza_HelenaPatriciaDonovan_M.pdf: 2305470 bytes, checksum: add3640d7732bc5676b5b9eb414466b0 (MD5) Previous issue date: 2015 / Resumo: Introdução: Insuficiência Ovariana Prematura 46XX (IOP) é um estado de hipogonadismo, caracterizado por oligoamenorréia, infertilidade e deficiência estrogênica em mulheres abaixo de 40 anos. Mulheres com IOP deveriam ser tratadas com reposição estrogênica até pelo menos a idade da menopausa, para reduzir os sinais e sintomas do hipoestrogenismo e se possível, preservar a massa mineral óssea. Objetivos: Avaliar se Terapia Hormonal (TH) com baixa dose estrogênica é adequada para reduzir a perda de massa óssea de mulheres com IOP. Métodos: Estudo de corte transversal. Foram avaliadas 239 mulheres com IOP: 132 usando TH baixa dose (17-Beta-Estradiol 1mg + Noretisterona ou estrogênio conjugado 0,625mg + acetado de Medroxiprogesterona) e 107 mulheres sem TH. Todas responderam anamnese detalhada (idade, idade na última menstruação e idade no início de tratamento) e foram submetidas a avaliação de densidade mineral óssea (DMO) na coluna lombar (CL), colo femoral (CF) e fêmur total (FT) através da técnica DEXA. Resultados: As médias de idade, idade na última menstruação e de IMC para o grupo sem tratamento e para o grupo com TH foram 38,1 ± 6,1 e 36,8 ± 7,3 anos; 31,4 ± 7,3 e 30,7 ± 7,2 anos; 26,6 ± 7,1 e 25,8 ± 4,6, respectivamente (p=NS). A DMO média na CL foi 1,06 ± 0,15 e 1,00 ± 0,17g/cm2 (p=0,003), para CF 0,92 ± 0,15 e 0,89 ± 0,14 (p=0,0479) e FT de 0,92 ± 0,19 e 0,91 ± 0,13 g/cm2 (p=0,039), respectivamente para os grupos. Verificou-se DMO alterada na CL em 45,1% (35,2% Osteopenia e 9,8% Osteoporose) das mulheres sem tratamento e 60,1% (38,1 Osteopenia e 22% Osteoporose) quando usavam TH baixa dose (p=0,01). No CF 25,4% (21,5% Osteopenia e 3,9% Osteoporose) das mulheres sem tratamento e 29,6% (22,8% Osteopenia e 6,7% Osteoporose) quando usavam TH baixa dose (p=0,38) mostravam alteração e, para FT, em 32,35% (19,6% Osteopenia e 12,7% Osteoporose) das sem tratamento e 36,4% (21,2% Osteopenia e 15,2% Osteoporose) para TH de baixa dose (p=0,34). Conclusão: A TH de baixa dose não parece ser adequada para reduzir a perda de massa óssea de coluna lombar, colo de fêmur e fêmur total em mulheres com IOP / Abstract: Introduction: Premature Ovarian Insufficiency (POI) is a hypogonadism state, characterized by oligoamenorhea, infertility and estrogen deficiency in women below the age of 40. Women with POI should be treated with estrogen replacement until at least the age of menopause, in order to reduce the signs and symptoms of hypoestrogenism and if possible, preserve bone mineral density (BMD). Aim: To assess whether hormone therapy (HT) with low estrogen dose is sufficient to avoid bone mass loss in women with POI. Methods: Cross-sectional study. Two hundred and thirty nine women were evaluated: 132 using low dose TH (1 mg of 17-Beta-Oestradiol + Norethisterone or 0.625 mg of conjugated estrogen + medroxyprogesterone acetate) and 107 women without HT. Detailed history was obtained from the studied women (age, age of last menstrual period and age of onset of treatment) and were subjected to evaluation of bone mineral density (BMD) in the lumbar spine (LS), femoral neck (FN) and total femur (TF) through DEXA technique. Results: The mean age, age at last menstrual period and BMI for the untreated group and the group with HT were 38.1 ± 6.1 and 36.8 ± 7.3 years; 31.4 ± 7.3 and 30.7 ± 7.2 years; 26.6 ± 7.1 and 25.8 ± 4.6 respectively (p = NS). The mean LS BMD was 1.06 ± 0.15 and 1.00 ± 0,17g / cm2 (p = 0.003), CF 0.92 ± 0.15 and 0.89 ± 0.14 (p = 0.0479) and FT 0.92 ± 0.19 and 0.91 ± 0.13 g / cm2 (p = 0.039) respectively for the groups. BMD at LS was compromised in 45.1% (35.2% osteopenia and osteoporosis 9.8%) for women without treatment and 60.1% (38.1% osteopenia and 22% osteoporosis) low dose HT (p = 0.01). For the FN 25.4% (21.5% Osteopenia and Osteoporosis 3.9%) of women without treatment and 29.6% (22.8% Osteopenia and Osteoporosis 6.7%) for the ones in use of TH low dose, were compromised (p = 0 38). For TF compromise was found in 32.35% (19.6% osteopenia and 12.7% osteoporosis) of the untreated women and 36.4% (21.2% and 15.2% osteoporosis osteopenia) for low dose HT (p = 0.34). Conclusion: The low dose HT seems to be inadequate to reduce bone loss in the lumbar spine, femoral neck and total femur in women with IOP / Mestrado / Fisiopatologia Ginecológica / Mestra em Ciências da Saúde

Orientadores: Cristina Laguna Benetti Pinto, Daniela Angerame Yela Gomes / Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-26T02:50:36Z (GMT). No. of bitstreams: 1 Soares_PatriciaMagda_D.pdf: 1747131 bytes, checksum: 116e5af2091ededd84ee3c720c9add74 (MD5) Previous issue date: 2014 / Resumo: Introdução: Mulheres com falência ovariana prematura (FOP) apresentam mais disfunção sexual e pior qualidade de vida que mulheres de mesma idade com função gonadal preservada, porém não está completamente esclarecida como que se inter-relacionam sexualidade e qualidade de vida em mulheres com FOP. Objetivo: Avaliar a função sexual e a qualidade de vida de mulheres com FOP. Analisar a interferência da função sexual na qualidade e quantificar a participação de cada domínio da função sexual sobre o índice total da função sexual de mulheres com FOP. Sujeitos e Métodos: Estudo tipo corte transversal com avaliação de 80 mulheres com FOP atendidas no Ambulatório de Ginecologia-Endócrina do Departamento de Tocoginecologia da Faculdade de Ciências Médicas da Unicamp. Foram incluídas mulheres com diagnóstico de FOP usuárias de terapia hormonal estroprogestativa, com pelo menos uma relação sexual heterosexual no último mês. Excluídas mulheres com doenças crônicas e/ou em uso de medicamentos que pudessem interferir na sexualidade ou na qualidade de vida destas mulheres. Cada mulher com FOP foi pareada a uma mulher de mesma idade ± 2 anos com função gonadal preservada, com ciclos menstruais regulares e que não utilizavam métodos contraceptivos hormonais, que compuseram o grupo de controle.Os mesmos critérios de exclusão foram adotados para este grupo. Todas as mulheres responderam dois questionários: Índice de Função Sexual Feminina (IFSF) e WHOQOL-bref, para avaliação dafunção sexual e qualidade de vida. Análise Estatística: Função sexual e qualidade de vida foram comparadas entre os grupos através do teste T Student ou do teste de Mann-Whitney. A relação entre função sexual e a qualidade de vida foi realizada através da Correlação de Spearman. Foi ainda realizada Análise Fatorial Exploratória por componentes para avaliar o peso de cada domínio da função sexual sobre a função sexual das mulheres com FOP. Resultados: As mulheres com FOP, quando comparadas ao grupo de controle, apresentaram piora em vários domínios da qualidade de vida, principalmente nos aspectos físicos (63,4±17,4 e 72,7±15,2, respectivamente, p=0,0004) e psicológicos (63,2±14,6 e 69,3±13,9, respectivamente, p=0,0075), além de pior função sexual em relação aos domínios excitação, lubrificação, orgasmo, satisfação e dor. Orgasmo e satisfação sexual foram aspectos da função sexual com correlação direta com todos os domínios da qualidade de vida de mulheres com FOP. A análise fatorial exploratória por componentes da função sexual mostrou que os domínios excitação e desejo foram os com maior participação na determinação da função sexual, respondendo por 41% do IFSF, enquanto os aspectos lubrificação e dispareunia foram os com menos participação proporcional sobre este índice. Conclusão: Mulheres com FOP têm piora na função sexual. Os aspectos psicológicos mostraram maior participação proporcional sobre a determinação da função sexual. O comprometimento dos diferentes aspectos da função sexual de mulheres jovens com FOP impactou diretamente diferentes domínios da qualidade de vida, com ação especialmente sobre o relacionamento social destas mulheres. Dar oportunidade para mulheres com FOP expressarem suas queixas sexuais de forma profunda, permitindo terapêuticas adequadas, poderá propiciar melhora na função sexual e na sua interação social / Abstract: Introduction: Women with premature ovarian failure (POF) have more sexual dysfunction and worse quality of life than women of the same age with preserved gonadal function, but it is not fully understood how sexuality and quality of life interrelate in women with POF. Objective: To evaluate sexual function and quality of life in women with POF. To analyze the interference of sexual function on quality of life and quantify the contribution of each sexual function domain on the total score in women with POF. Subjects and Methods: Cross-sectional study of 80 women with POF in the outpatient Endocrine Gynecology Clinic, Department of Obstetrics and Gynecology, Faculty of Medical Sciences, UNICAMP. Women diagnosed with FOP using estroprogestative hormone therapy, with at least one heterosexual intercourse in the last month were included. Women with chronic diseases and/or use of drugs that could interfere with sexuality and quality of life were excluded. Each woman with FOP was matched with a woman of the same age ± 2 years with preserved gonadal function, with regular menstrual cycles and who were not using hormonal contraception. These women made up the control group. The same exclusion criteria were used for this group. All women completed two questionnaires: Female Sexual Function Index (IFSF) and WHOQOL-BREF to evaluate sexual function and quality of life. Statistical Analysis: Sexual function and quality of life were compared between groups using the t Student test or the Mann-Whitney test. The correlation between sexual function and quality of life was carried out using Spearman correlation. Exploratory Factor Analysis for components was used to evaluate the role of each domain on the sexual function of women with POF. Results: Women with POF, when compared to the control group, presented worse scores in several domains of quality of life, especially physical aspects (63.4 ± 17.4 and 72.7 ± 15.2, respectively, p = 0.0004) and psychological (63.2 ± 14.6 and 69.3 ± 13.9, respectively, p = 0.0075), and worse sexual function scores for arousal, lubrication, orgasm, satisfaction and pain. Orgasm and sexual satisfaction were aspects of sexual function with direct correlation to all domains of quality of life in women with POF. Exploratory factor analysis of sexual function showed that the arousal and desire domains had the highest participation in the determination of sexual function, accounting for 41% of IFSF, while lubrication and dyspareunia had a smaller participation in the overall índex. Conclusion: Women with POF have worse sexual function. The psychological aspects showed greater proportional share in the determination of sexual function. The impairment of the different sexual function domains in young women with POF directly influenced different domains of quality of life, especially with an impact on the social relationships of these women. Allowing these women to deeply express their sexual complaints, enables the possibility of adequate therapies and may improve the sexual function and social interaction of women with POF / Doutorado / Fisiopatologia Ginecológica / Doutora em Ciências da Saúde

Abstract Anti-Müllerian hormone (AMH) was identified originally in connection with its role in male sexual differentiation. In females, AMH is secreted by ovarian granulosa cells of growing follicles and its serum levels correlate well with the remaining number of follicles, thus reflecting ovarian reserve. The aim of this study was to explore the expression and secretion of AMH in human ovarian development and in various disorders resulting in decreased reproductive function. In fetal ovaries, AMH expression was found to be initiated at midgestation and it increased gradually towards term. In serum samples from infant girls, transient postnatal activation of the pituitary-ovarian axis was found and it occurred later in premature infants, reflected in lower serum AMH levels and lower numbers of growing follicles. This immaturity resulted in insufficient feedback from ovary to pituitary and may explain the higher levels of follicle-stimulating hormone (FSH) in these girls. Ovarian follicle reserve is typically diminished in women with primary ovarian insufficiency (POI). Assay of serum AMH may be used to identify women with POI and existing follicles, as women with FSH receptor mutation who were known to have follicles had serum AMH levels in low normal range and girls/women with Turner syndrome mosaicism had higher serum AMH levels compared with those with other karyotypes. The diagnostics and follow-up of ovarian granulosa cell tumors (GCTs) are challenging as a result of the rarity of the disease and late possible recurrences. Assay of serum AMH combined with assay of the currently used marker inhibin B was shown to improve follow-up of GCTs in individual patients, compared with serum inhibin B measurement alone. The analyses revealed that AMH and inhibin B assays perform similarly in detecting macroscopic tumors. Continuous use of combined hormonal contraceptives inhibited ovarian activity independently of the administration route, as serum AMH levels decreased significantly and similarly during oral, transdermal or vaginal administration. The decrease of serum AMH levels indicates that AMH is secreted partially from FSH-dependent follicles. The study provides novel information on AMH secretion in ovarian development, and the use of AMH assay in assessing ovarian reserve and detecting ovarian disorders such as ovarian insufficiency and GCTs. / Tiivistelmä Naisen munasarjassa munarakkuloiden granuloosasolut erittävät anti-Müllerian hormonia (AMH), ja sen pitoisuudet seerumissa heijastavat jäljellä olevien munarakkuloiden määrää. Tässä tutkimuksessa tarkasteltiin AMH:n eritystä ja ilmentymistä munasarjan kehityksen aikana ja erilaisissa munasarjan toiminnan häiriötiloissa. Tuloksina havaittiin, että AMH:a ilmentyy sikiökaudella munasarjassa jo keskiraskaudesta eteenpäin. Syntymän jälkeen otetuissa seeruminäytteissä todettiin ohimenevä aivolisäkkeen ja munasarjan aktivaatio, joka ilmeni myöhemmin ennenaikaisesti syntyneillä tytöillä. Heillä havaittiin vähemmän kasvavia munarakkuloita ja matalammat seerumin AMH-pitoisuudet syntymän jälkeen kuin täysiaikaisilla tytöillä. Tämä kypsymättömyys johtui todennäköisesti munasarjan riittämättömästä palautejärjestelmästä aivolisäkkeeseen, mikä voi selittää korkeammat follikkelia stimuloivan hormonin (FSH) pitoisuudet ennenaikaisesti syntyneillä tytöillä. Ennenaikainen munasarjojen toiminnan hiipuminen voi johtua esim. kromosomi- tai geenivirheestä. Naisilla, joilla on virheellinen FSH-reseptori, tiedetään olevan munarakkuloita jäljellä, ja tulokset osoittivat seerumin AMH-pitoisuuksien olevan lähes normaali näillä naisilla. Myös tytöillä ja naisilla, joilla on todettu Turnerin oireyhtymän mosaikismi, AMH-pitoisuudet olivat merkittävästi korkeammat verrattuna muihin karyotyyppeihin. Täten AMH-määrityksen avulla voidaan mahdollisesti löytää ennenaikaisesta munasarjojen toiminnan hiipumisesta kärsivien joukosta ne naiset, joilla on vielä jäljellä munarakkuloita. Munasarjan granuloosasolukasvaimen diagnostiikka ja seuranta ovat haastavia kasvaimen myöhäisen uusiutumistaipumuksen ja harvinaisuuden vuoksi. Tulokset osoittivat, että seerumin AMH-määrityksen yhdistäminen tällä hetkellä käytössä olevaan inhibiini B -määritykseen voisi parantaa yksittäisten potilaiden seurantaa makroskooppisen kasvaimen toteamisen osalta. Tutkimus osoitti hormonaalisten yhdistelmäehkäisyvalmisteiden jatkuvan käytön vähentävän munasarjan aktiivisuutta merkittävästi annostelureitistä riippumatta, koska seerumin AMH-pitoisuudet laskivat samalla tavalla ehkäisypilleriä, -rengasta ja -laastaria käyttävillä naisilla. Tutkimus toi uutta tietoa AMH:n erityksestä munasarjan kehityksen aikana sekä AMH-määrityksen käytön mahdollisuuksista munarakkuloiden määrän arvioinnissa ja eri häiriötilojen tunnistamisessa.