Article
Medicine, General & Internal
Rebecca Buchert, Elisabeth Schenk, Thomas Hentrich, Nico Weber, Katharina Rall, Marc Sturm, Oliver Kohlbacher, Andre Koch, Olaf Riess, Sara Y. Brucker, Julia M. Schulze-Hentrich
Summary: By analyzing the genetic material of discordant monozygotic twins with MRKH, potential genetic causes were identified. The study revealed the involvement of estrogen in the pathology of MRKH, although no clear pathogenic differences were detected.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Biology
Isaac Kyei-Barffour, Miranda Margetts, Alla Vash-Margita, Emanuele Pelosi
Summary: MRKH syndrome is a disorder caused by Mullerian ducts dysgenesis affecting women with a typical karyotype. The etiology is complex and largely unexplained, with possible genetic and epigenetic factors involved. Understanding the molecular mechanisms and improving clinical management remains a challenge due to limited research in functional validation and translational studies.
YALE JOURNAL OF BIOLOGY AND MEDICINE
(2021)
Review
Oncology
Na Chen, Shuang Song, Xinmiao Bao, Lan Zhu
Summary: This review provides an update on the etiology, clinical manifestations, diagnosis, psychological impact, treatment, and reproductive options for Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. The underlying causes of MRKH syndrome remain unclear, with both genetic and non-genetic factors proposed. The syndrome has a significant psychological impact on patients, leading to low self-esteem, poor coping strategies, and symptoms of depression and anxiety. Psychological counseling and peer support are recommended for diagnosed patients. Vaginal dilation is the first-line therapy, with vaginal reconstruction as the second-line option for those who do not respond to dilation. Uterine transplantation and gestational surrogacy are potential options for women with MRKH syndrome to achieve biological motherhood.
FRONTIERS OF MEDICINE
(2022)
Article
Obstetrics & Gynecology
Christine M. Pennesi, Emily M. English, Sarah Bell, Amy C. Lossie, Elisabeth H. Quint, Carolyn W. Swenson
Summary: Mayer-Rokitansky-Kuster-Hauser syndrome, a rare condition, is associated with common urinary, prolapse, and bowel symptoms. Vaginal lengthening treatments do not significantly affect the prevalence of pelvic floor symptoms, except for recent urinary and anal incontinence. Further research is needed to understand the impact of different vaginal lengthening treatments on pelvic floor symptoms.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2021)
Article
Obstetrics & Gynecology
Nicole Fischer, Helen Xun, Amy Lossie, Darya Fadavi, Halley Darrach, Pooja Yesantharao, Franca Kraenzlin, Bhuchitra Singh, Justin M. Sacks, James H. Segars
Summary: The study found that most individuals with MRKH syndrome believe that uterine transplantation should be an option for all women with uterine factor infertility and should be covered by health insurance. Many participants perceived the benefits of the procedure to outweigh the risks and considered it to be an ethical procedure.
FERTILITY AND STERILITY
(2021)
Review
Medicine, General & Internal
Yifei Dai, Chenglu Qin, Linling Zhu, Guangnan Luo
Summary: MRKH syndrome with genital inguinal hernia is rare and often underreported. This article presents 3 cases of this syndrome and highlights the importance of accurate diagnosis.
Article
Biochemistry & Molecular Biology
Ella Thomson, Minh Tran, Gorjana Robevska, Katie Ayers, Jocelyn van der Bergen, Prarthna Gopalakrishnan Bhaskaran, Eric Haan, Silvia Cereghini, Alla Vash-Margita, Miranda Margetts, Alison Hensley, Quan Nguyen, Andrew Sinclair, Peter Koopman, Emanuele Pelosi
Summary: In this study, we identified chromosomal changes, including the deletion at 17q12, which contains both HNF1B and LHX1, through microarray analysis of MRKH syndrome patients. Further experiments showed that the loss of Hnf1b function in mice led to hypoplastic development of the uterus and kidney anomalies, closely resembling the MRKH type II phenotype. Single-cell RNA sequencing analysis revealed dysregulation of processes associated with cell proliferation, migration, and differentiation downstream of Hnf1b. This study provides important insights into the molecular mechanisms underlying MRKH syndrome.
HUMAN MOLECULAR GENETICS
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Amjad Soltany, Arabi Abbas, Nour Sbainy, Ahed Haj Ibrahim, Nizar Abbas
Summary: This article reports a rare case of a giant mediastinal teratoma occupying the entire hemithorax and causing complete lung whiteout. The diagnosis and complete surgical resection of such tumors are challenging, and the details are presented in a 24-year-old Syrian woman previously diagnosed with Mayer-Rokitansky-Kuster-Hauser syndrome. Additionally, the simultaneous occurrence of Mayer-Rokitansky-Ktister-Hauser syndrome and a mediastinal mature teratoma is documented.
ANNALS OF THORACIC SURGERY
(2022)
Article
Pediatrics
Wei Jin, Chunjian Gu, Zhenghua Fei, Jingying Fei, Gesheng Wen, Yanhua Min, Dongchan Chen, Wei Wu
Summary: This article reports a case of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome combined with idiopathic central precocious puberty (ICPP). The patient, a 7-year-old girl, presented with bilateral breast development and relatively low body height. Treatment resulted in normal height and delayed bone age development. This case highlights the possibility of concurrent precocious puberty in MRKH syndrome patients and emphasizes the importance of careful monitoring and assessment of gonads and sexual organs in children with precocious puberty.
TRANSLATIONAL PEDIATRICS
(2023)
Review
Reproductive Biology
Reeta Mahey, Anubhuti Rana, Rohitha Cheluvaraju, Surabhi Vyas, Ritu Raj, Neerja Bhatla
Summary: This is a rare case of Mullerian agenesis and Turner mosaic syndrome with tubo-ovarian inguinal hernia. The patient underwent laparoscopic hernia repair and repositioning of the left ovary, and had a stable post-operative course. The case highlights the importance of complete evaluation before any medical or surgical intervention.
JOURNAL OF OVARIAN RESEARCH
(2023)
Article
Genetics & Heredity
Na Chen, Sen Zhao, Angad Jolly, Lianlei Wang, Hongxin Pan, Jian Yuan, Shaoke Chen, Andre Koch, Congcong Ma, Weijie Tian, Ziqi Jia, Jia Kang, Lina Zhao, Chenglu Qin, Xin Fan, Katharina Rall, Zeynep Coban-Akdemir, Zefu Chen, Shalini Jhangiani, Ze Liang, Yuchen Niu, Xiaoxin Li, Zihui Yan, Yong Wu, Shuangshuang Dong, Chengcheng Song, Guixing Qiu, Shuyang Zhang, Pengfei Liu, Jennifer E. Posey, Feng Zhang, Guangnan Luo, Zhihong Wu, Jianzhong Su, Jianguo Zhang, Eugenia Y. Chen, Konstantinos Rouskas, Stavros Glentis, Flora Bacopoulou, Efthymios Deligeoroglou, George Chrousos, Stanislas Lyonnet, Michel Polak, Carla Rosenberg, Irene Dingeldein, Ximena Bonilla, Christelle Borel, Richard A. Gibbs, Jennifer E. Dietrich, Antigone S. Dimas, Stylianos E. Antonarakis, Sara Y. Brucker, James R. Lupski, Nan Wu, Lan Zhu
Summary: This study identified 12 likely gene-disrupting variants in 7 genes that are essential for Mullerian/Wolffian ducts development in individuals with MRKHS, and these variants were not found in control samples. Interestingly, there was a sex-limited penetrance with paternal inheritance in multiple families. Furthermore, a syndromic condition characterized by congenital hypothyroidism and MRKHS was identified in one individual from a PAX8-associated cohort.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Review
Obstetrics & Gynecology
Francesco Fedele, Alessandro Bulfoni, Stefano Salvatore, Massimo Candiani
Summary: The MRKH syndrome is the most common cause of uterine aplasia, with legal adoption being the only option until recently. Now gestational surrogacy (GS) and uterine transplantation (UTx) are new fertility options, with UTx facing challenges due to complexity and necessary immunologic therapies.
CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY
(2021)
Article
Medicine, General & Internal
Domenico Dell'Edera, Arianna Allegretti, Mario Ventura, Ludovica Mercuri, Angela Mitidieri, Giacinto Cuscianna, Annunziata Anna Epifania, Elisena Morizio, Melissa Alfonsi, Paolo Guanciali-Franchi
Summary: MRKH syndrome is a congenital condition characterized by agenesis of vagina and uterus, sometimes associated with other organ defects. Patients with a microduplication on chromosome 22q11.21 may exhibit a wide range of clinical features, possibly linking them to DiGeorge/velocardiofacial syndrome.
JOURNAL OF MEDICAL CASE REPORTS
(2021)
Review
Nursing
Anu Baby, Manju C. Pallam, Mark Hayter
Summary: The paper aims to present the evidence on the effectiveness of non-surgical interventions to improve health and well-being in women with MRKH syndrome. The review found that vaginal dilation is a viable treatment option and highlights the need for psychological intervention to enhance health and well-being.
JOURNAL OF ADVANCED NURSING
(2023)
Article
Pediatrics
Zhuanzhuan Ai, Xiaoyun Zhu, Hong Chen, Ruimin Chen
Summary: Our case report presents five patients with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS), four of whom had precocious puberty and one had growth hormone deficiency (GHD). These patients have unique endocrine features and genetic analysis results. Advanced bone age and pelvic MRI confirmed the absence of uterus, while one patient had a deletion in the 17q12 gene.
Article
Psychology, Clinical
Edna M. Sant'Anna, Sara P. C. Paiva, Raphael P. Santos, Ana M. S. Rodrigues, Nakita A. Davis, Simone F. Nery, Fernanda P. Maia, Adaliene V. M. Ferreira, Fernando M. Reis
Summary: In the short term, the mindfulness-based program did not lead to weight loss in infertile women, but it did contribute to a reduction in waist circumference, possibly due to a decrease in food energy intake.
JOURNAL OF PSYCHOSOMATIC OBSTETRICS & GYNECOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Virginia M. Pereira, Fernando M. Reis, Maira Casalechi, Adelina M. Reis
Summary: The study found that levels of Ang-(1-7) and Mas receptor were reduced in PCO compared to normal ovaries, and ACE2 mRNA expression was decreased in PCO as well. This suggests that the ovarian ACE2-Ang-(1-7)-Mas receptor axis is inhibited in rat PCO and may not be a co-factor of excess testosterone production.
PROTEIN AND PEPTIDE LETTERS
(2021)
Article
Cell Biology
Camila P. Almeida, Camila O. Silveira, Enio F. Ferreira, Marcia C. Ferreira, Gabriella G. Oliveira, Emerson S. Veloso, Felipe H. S. Silva, Santuza S. Coelho, Leonardo M. Moraes, Fernando M. Reis, Helen L. Del Puerto
Summary: The study revealed that pro-caspase-3 is constitutively expressed in human luteinized granulosa cells (LGC), while cleaved caspase-3 is found in only a small percentage of cells. The expression of pro-caspase-3 was independent of CASP3 mRNA levels and did not correlate with the amount of cleaved caspase-3. These findings suggest that pro-caspase-3 may play a role in quick cleavage into active caspase-3 and triggering apoptosis during gonadotropin-induced follicular development.
Article
Andrology
Augusto B. Reis, Fernando Reis, Paulo G. Salles, Fernanda R. C. L. Almeida, Reginaldo Martello, Wiviane A. Assis, Andre L. Caldeira-Brant, Edson S. Tatsuo, Helio Chiarini-Garcia
Summary: The study found that tissue preparation with G/GMA improved image resolution and provided more reliable results for spermatogenesis evaluation compared to B/P in azoospermic men, allowing for a more accurate fertility-oriented diagnosis.
SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE
(2021)
Review
Biology
Taynn El Cury-Silva, Monique E. G. Nunes, Maira Casalechi, Fabio Comim, Jhenifer K. Rodrigues, Fernando M. Reis
Summary: The study compared different cryoprotectant agents (CPAs) used for vitrification of human or primate ovarian tissue and found that a combination of 27% ethylene glycol (EG) plus 27% glycerol, in addition to non-permeable synthetic polymers, resulted in the highest rate of morphologically normal follicles after cryopreservation (98%). The use of relatively low concentrations of dimethyl sulfoxide (DMSO) combined with EG and other CPAs yielded over 90% intact follicles after vitrification.
Article
Biochemistry & Molecular Biology
Flavia R. Oliveira, Maira Casalechi, Marcia M. Carneiro, Ivete de Avila, Cynthia Dela Cruz, Helen L. Del Puerto, Aroldo F. Camargos, Mauricio S. Abrao, Fernando M. Reis
Summary: The study found that Oct-4, C-kit and Musashi-1 are widely expressed in normal and endometriosis patients' endometrium, as well as in endometriotic lesions. However, these markers are not suitable for the characterization of endometrial SPCs.
MOLECULAR BIOLOGY REPORTS
(2021)
Review
Obstetrics & Gynecology
Larissa M. Coutinho, Wiviane A. Assis, Ananda Spagnuolo-Souza, Fernando M. Reis
Summary: Uterine leiomyoma and pregnancy may impact each other, with evidence suggesting increased risks of adverse pregnancy outcomes such as spontaneous abortion, placenta previa, placental abruption, and fetal malpresentation in the presence of leiomyomas. Multiple and large fibroids may also contribute to higher rates of cesarean section and preterm birth. Future studies should focus on evaluating the growth pattern of leiomyomas and their influence on obstetric outcomes by enrolling women diagnosed with fibroids prior to pregnancy and following them prospectively throughout gestation and puerperium.
REPRODUCTIVE SCIENCES
(2022)
Review
Nutrition & Dietetics
Thais R. Silva, Karen Oppermann, Fernando M. Reis, Poli Mara Spritzer
Summary: Nutritional habits are crucial for postmenopausal women's health, with low-fat, plant-based diets showing beneficial effects on body composition. The Mediterranean diet pattern and other healthy habits may contribute to the prevention of bone, metabolic, and cardiovascular diseases during the postmenopausal period.
Article
Public, Environmental & Occupational Health
Maira Casalechi, Bruna B. Coimbra, Debora M. Rocha, Fernanda R. Carvalho, Alessandra D. Clarizia, Wiviane A. Assis, Regina Amelia Lopes Pessoa Aguiar, Fernando M. Reis
Summary: This study aimed to investigate the levels of activin A in serum and urine during different moments of gestation in primigravidae and multigravidae. The results showed that activin A levels in serum were significantly higher in the third trimester for multigravidae compared to the first and second trimesters, while there were no significant changes in primigravidae. Urine activin A concentrations did not differ between the two groups and did not change throughout gestation, suggesting that urine activin A may not be a reliable indicator of systemic hormone levels in pregnant women.
Article
Nutrition & Dietetics
Stefania Greco, Pamela Pellegrino, Alessandro Zannotti, Giovanni Delli Carpini, Andrea Ciavattini, Fernando M. Reis, Pasquapina Ciarmela
Summary: In recent years, there has been a growing interest in natural therapies for preventing or treating female diseases, particularly those involving phytoprogestins. In vitro studies have shown that some phytoprogestins have anti-tumoral and anti-fibrotic effects.
Article
Obstetrics & Gynecology
Andrea Prestes Nacul, Gabriela Pravatta Rezende, Daniela Angerame Yela Gomes, Tecia Maranhao, Laura Olinda Bregieiro Fernandes Costa, Fernando Marcos dos Reis, Gustavo Arantes Rosa Maciel, Lia Cruz Vaz da Costa Damasio, Ana Carolina Japur de Sa Rosa e Silva, Vinicius Medina Lopes, Maria Candida Baracat, Gustavo Mafaldo Soares, Jose Maria Soares, Cristina Laguna Benetti-Pinto
REVISTA BRASILEIRA DE GINECOLOGIA E OBSTETRICIA
(2021)
Article
Obstetrics & Gynecology
Andrea Prestes Nacul, Gabriela Pravatta Rezende, Daniela Angerame Yela Gomes, Tecia Maranhao, Laura Olinda Bregieiro Fernandes Costa, Fernando Marcos dos Reis, Gustavo Arantes Rosa Maciel, Lia Cruz Vaz da Costa Damasio, Ana Carolina Japur de Sa Rosa E Silva, Vinicius Medina Lopes, Maria Candida Baracat, Gustavo Mafaldo Soares, Jose Maria Soares Junior, Cristina Laguna Benetti-Pinto
REVISTA BRASILEIRA DE GINECOLOGIA E OBSTETRICIA
(2022)
Review
Obstetrics & Gynecology
Elaine Sousa, Simone F. Nery, Maira Casalechi, Luiz C. Thimoteo, Sara P. C. Paiva, Agnaldo L. Silva-Filho, Fernando M. Reis
Summary: Several studies have shown that 'stress' is a significant factor leading to discontinuation of assisted reproductive technology (ART) treatment, but the prevalence and characteristics of stressors and stress responses in this context remain unclear. This systematic review evaluated the perception and reported causes of 'stress' among couples who discontinued ART treatment. The results showed that stress was reported by approximately 30.9% of participants as a reason for ART discontinuation, with factors such as prognosis, treatment discomfort, family demands, time pressure, and economic burden contributing to stress.
REPRODUCTIVE BIOMEDICINE ONLINE
(2023)
Article
Obstetrics & Gynecology
Fernando M. Reis, Sandrine Chouzenoux, Mathilde Bourdon, Mohamed Jeljeli, Charles Chapron, Frederic Batteux
Summary: Endometriotic cells from patients with endometriosis have higher ability to proliferate, produce reactive oxygen species (ROS), and secrete proinflammatory cytokines compared to endometrial cells from controls. Treatment with ulipristal acetate (UPA) stimulates proliferation and ROS production in endometriotic cells but fails to reduce the excessive secretion of proinflammatory cytokines.←
REPRODUCTIVE SCIENCES
(2023)
Article
Obstetrics & Gynecology
Alexon M. Racilan, Wiviane A. Assis, Maira Casalechi, Ananda Spagnolo-Souza, Marcelo A. Pascoal-Xavier, Ana C. Simoes-e-Silva, Helen L. Del Puerto, Fernando M. Reis
Summary: This study found that both human myometrium and uterine leiomyoma express ACE2 mRNA and have abundant distribution of ACE2 protein in their smooth muscle cells and microvasculature.
JOURNAL OF ENDOMETRIOSIS AND PELVIC PAIN DISORDERS
(2021)
