scholarly journals Partial SHOX duplications associated with various cases of congenital uterovaginal aplasia (MRKH syndrome): A tangible evidence but a puzzling mechanism

2021 ◽  
Vol 4 (1) ◽  
pp. 001-008
Author(s):  
Guerrier Daniel ◽  
Morcel Karine
Keyword(s):  
Reproductive Tract ◽  
Chromosomal Abnormalities ◽  
Severe Form ◽  
Female Reproductive Tract ◽  
Fallopian Tubes ◽  
Shox Gene ◽  
Mrkh Syndrome ◽  
Tangible Evidence

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most severe form of congenital malformation of the inner female reproductive tract. It is diagnosed as such when the uterus, the upper vagina and optionally the Fallopian tubes are absent. It accounts for approximately 1 in 5000 live-born females and has been classified in two subtypes: type 1 in the presence of isolated uterovaginal aplasia and type 2 when associated in various combinations with extragenital malformations of the kidneys, skeleton, heart and auditory system. Most cases of MRKH syndrome are sporadic, although a significant number of many familial cases have been reported to date. Despite numerous studies, the genetics of the syndrome remains largely unknown and appears to be heterogeneous: chromosomal abnormalities and some candidate gene variants appear to be associated with a few cases; others have been suggested but not yet confirmed. To date, mainly the GREB1L gene appears to be a serious candidate. Among the remaining hypotheses, the controversial contribution of partial duplications of the SHOX gene is still puzzling, as the deficiency of this gene is a major cause of skeletal adysplasia syndromes. We have attempted to resolve this controversy in a study of 60 MRKH cases. Our results tend to show that SHOX duplications can be the origin of a genetic mechanism responsible for MRKH syndrome.

scholarly journals Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight

2021 ◽  
Vol 22 (21) ◽  
pp. 11495
Author(s):  
Karina Kapczuk ◽  
Witold Kędzia
Keyword(s):  
Reproductive Tract ◽  
Androgen Insensitivity Syndrome ◽  
Female Reproductive Tract ◽  
Unknown Primary ◽  
Primary Amenorrhea ◽  
Complete Androgen Insensitivity Syndrome ◽  
Associated Malformations ◽  
Type 3

Congenital anomalies of the female reproductive tract that present with primary amenorrhea involve Müllerian aplasia, also known as Mayer–Rokitansky–Küster–Hauser syndrome (MRKHS), and cervical and vaginal anomalies that completely obstruct the reproductive tract. Karyotype abnormalities do not exclude the diagnosis of MRKHS. Familial cases of Müllerian anomalies and associated malformations of the urinary and skeletal systems strongly suggest a complex genetic etiology, but so far, the molecular mechanism in the vast majority of cases remains unknown. Primary amenorrhea may also be the first presentation of complete androgen insensitivity syndrome, steroid 5α-reductase type 2 deficiency, 17β-hydroxysteroid dehydrogenase type 3 deficiency, and Leydig cells hypoplasia type 1; therefore, these disorders should be considered in the differential diagnosis of the congenital absence of the uterus and vagina. The molecular diagnosis in the majority of these cases can be established.

Bazedoxifene and conjugated estrogen prevent diet-induced obesity, hepatic steatosis, and type 2 diabetes in mice without impacting the reproductive tract

2014 ◽  
Vol 307 (3) ◽  
pp. E345-E354 ◽  
Author(s):  
Jose Barrera ◽  
Ken L. Chambliss ◽  
Mohamed Ahmed ◽  
Keiji Tanigaki ◽  
Bonne Thompson ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Body Composition ◽  
Hepatic Steatosis ◽  
Glucose Homeostasis ◽  
Reproductive Tract ◽  
Body Weight Gain ◽  
Female Reproductive Tract ◽  
Minimal Impact ◽  
Conjugated Estrogen

Despite the capacity of estrogens to favorably regulate body composition and glucose homeostasis, their use to combat obesity and type 2 diabetes is not feasible, because they promote sex steroid-responsive cancers. The novel selective estrogen receptor modulator (SERM) bazedoxifene acetate (BZA) uniquely antagonizes both breast cancer development and estrogen-related changes in the female reproductive tract. How BZA administered with conjugated estrogen (CE) or alone impacts metabolism is unknown. The effects of BZA or CE + BZA on body composition and glucose homeostasis were determined in ovariectomized female mice fed a Western diet for 10–12 wk. In contrast to vehicle, estradiol (E2), CE, BZA, and CE + BZA equally prevented body weight gain by 50%. In parallel, all treatments caused equal attenuation of the increase in body fat mass invoked by the diet as well as the increases in subcutaneous and visceral white adipose tissue. Diet-induced hepatic steatosis was attenuated by E2 or CE, and BZA alone or with CE provided even greater steatosis prevention; all interventions improved pyruvate tolerance tests. Glucose tolerance tests and HOMA-IR were improved by E2, CE, and CE + BZA. Whereas E2 or CE alone invoked a uterotrophic response, BZA alone or CE + BZA had negligible impact on the uterus. Thus, CE + BZA affords protection from diet-induced adiposity, hepatic steatosis, and insulin resistance with minimal impact on the female reproductive tract in mice. These combined agents may provide a valuable new means to favorably regulate body composition and glucose homeostasis and combat fatty liver.

scholarly journals Patient-derived endometrial organoids from MRKH patients: Insight in disease causing pathways

2021 ◽  
Author(s):  
Sara Y. Brucker ◽  
Thomas Hentrich ◽  
Julia M. Schulze-Hentrich ◽  
Martin Pietzsch ◽  
Noel Wajngarten ◽  
...  
Keyword(s):  
Reproductive Tract ◽  
Ovarian Function ◽  
Female Reproductive Tract ◽  
Mrkh Syndrome ◽  
Powerful Research Tool ◽  
Healthy Control ◽  
Organoid Cultures ◽  
Holding Back

The uterus is responsible for the nourishment and mechanical protection of the developing embryo and fetus and is an essential part in mammalian reproduction. The Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is characterized by agenesis of the uterus and upper part of the vagina in females with normal ovarian function. Although heavily studied, the cause of the disease is still enigmatic. Current research in the field of MRKH mainly focusses on DNA-sequencing efforts and, so far, failed to decipher the nature and heterogeneity of the disease, thereby holding back scientific and clinical progress. Here, we developed long-term expandable organoid cultures from endometrium found in uterine rudiment horns of MRKH patients. Phenotypically, they share great similarity with healthy control organoids and are surprisingly fully hormone responsive. Transcriptome analyses, however, identified an array of dysregulated genes that point at potentially disease-causing pathways altered during the development of the female reproductive tract. We consider the endometrial organoid cultures to be a powerful research tool that promise to enable an array of studies into the pathogenic origins of MRKH syndrome and possible treatment opportunities to improve patient quality of life.

scholarly journals Organoid systems to study the human female reproductive tract and pregnancy

2020 ◽  
Vol 28 (1) ◽  
pp. 35-51 ◽  
Author(s):  
Lama Alzamil ◽  
Konstantina Nikolakopoulou ◽  
Margherita Y. Turco
Keyword(s):  
Pregnancy Outcome ◽  
Reproductive Tract ◽  
Female Reproductive Tract ◽  
Fallopian Tubes ◽  
Human Female ◽  
Placental Development ◽  
Recent Developments ◽  
Opening Up

AbstractBoth the proper functioning of the female reproductive tract (FRT) and normal placental development are essential for women’s health, wellbeing, and pregnancy outcome. The study of the FRT in humans has been challenging due to limitations in the in vitro and in vivo tools available. Recent developments in 3D organoid technology that model the different regions of the FRT include organoids of the ovaries, fallopian tubes, endometrium and cervix, as well as placental trophoblast. These models are opening up new avenues to investigate the normal biology and pathology of the FRT. In this review, we discuss the advances, potential, and limitations of organoid cultures of the human FRT.

scholarly journals Mechanism of semen liquefaction and its potential for a novel non-hormonal contraception†

2020 ◽  
Vol 103 (2) ◽  
pp. 411-426
Author(s):  
Prashanth Anamthathmakula ◽  
Wipawee Winuthayanon
Keyword(s):  
Serine Proteases ◽  
Reproductive Tract ◽  
Hormonal Contraception ◽  
Female Reproductive Tract ◽  
Fallopian Tubes ◽  
Contraceptive Methods ◽  
The Past ◽  
Liquefaction Process ◽  
Protein Components ◽  
Prime Target

Abstract Semen liquefaction is a proteolytic process where a gel-like ejaculated semen becomes watery due to the enzymatic activity of prostate-derived serine proteases in the female reproductive tract. The liquefaction process is crucial for the sperm to gain their motility and successful transport to the fertilization site in Fallopian tubes (or oviducts in animals). Hyperviscous semen or failure in liquefaction is one of the causes of male infertility. Therefore, the biochemical inhibition of serine proteases in the female reproductive tract after ejaculation is a prime target for novel contraceptive development. Herein, we will discuss protein components in the ejaculates responsible for semen liquefaction and any developments of contraceptive methods in the past that involve the liquefaction process.

Histiocytosis X

1980 ◽  
Vol 88 (5) ◽  
pp. 544-547 ◽  
Author(s):  
Harold F. Schuknecht ◽  
Spyros Papaspyrou
Keyword(s):  
Differential Diagnosis ◽  
Poor Prognosis ◽  
Severe Form ◽  
Histiocytosis X ◽  
Osteolytic Lesions ◽  
Favorable Prognosis ◽  
Short Course ◽  
Form Type

Histiocytosis X is characterized by a proliferation of cytologically benign histiocytes and occurs in a severe form (type 1) with a short course and poor prognosis and a milder form (type 2) with a protracted course and favorable prognosis. Otolaryngologists will encounter the type 2 form of the disease and must include it in the differential diagnosis of osteolytic lesions of the skull.

PARTICIPATION OF SEMINAL PLASMA DURING THE PASSAGE OF SPERMATOZOA IN THE FEMALE REPRODUCTIVE TRACT OF THE PIG AND HORSE

1956 ◽  
Vol 13 (2) ◽  
pp. 133-140 ◽  
Author(s):  
T. MANN ◽  
C. POLGE ◽  
L. E. A. ROWSON
Keyword(s):  
Citric Acid ◽  
Seminal Plasma ◽  
Reproductive Tract ◽  
Female Reproductive Tract ◽  
Fallopian Tubes ◽  
Chemical Methods ◽  
Quantitative Manner

SUMMARY Chemical methods for the analysis of three characteristic constituents of seminal plasma, namely, fructose, citric acid and ergothioneine, were applied in an attempt to evaluate in a quantitative manner the participation of seminal plasma in the passage of sperm along the female reproductive tract of two species, the pig and the horse. At specified intervals after mating, the reproductive tract of the gilt and the mare, respectively, was exposed, the uterine horns and Fallopian tubes clamped into several segments and the contents of the isolated portions withdrawn for analysis. In the gilt, about 40 min after mating, the uterine horns were found to be filled with semen containing spermatozoa, as well as fructose, ergothioneine and citric acid, but 6 hr after mating the bulk of sperm and seminal plasma had disappeared. In the mare, 50 min after mating, spermatozoa, ergothioneine and citric acid were recovered from both uterine horns, in proportions resembling those found in fresh stallion semen.

scholarly journals Microbiome & Endometriosis

2021 ◽  
Vol 7 (05) ◽  
pp. 12-27
Keyword(s):  
Reproductive Tract ◽  
Cervix Uterus ◽  
Female Reproductive Tract ◽  
Pelvic Cavity ◽  
Fallopian Tubes ◽  
Malignant Tumours ◽  
Non Invasive ◽  
Biochemically Active Compounds ◽  
Impaired Quality

Endometriosis is a chronic disease of the female reproductive system, which is characterised by the presence of endometrial tissue outside the uterus especially in the pelvic cavity that includes ovaries, fallopian tubes and it may occur extra genitally in some rare cases. 176 million women all over the world including 26 million in India suffer from endometriosis and high frequency was observed between the age group of 26-30 years, resulting in increased primary infertility. Various studies surveying the female reproductive tract have confirmed the existence of microbiota starting in the vagina, cervix, uterus, fallopian tubes and ovaries. These microbes play a crucial role at different stages ofthe reproduction, in forming a physical barrier against pathogen and the stimulation of host defence mechanisms. Direct and indirect mechanisms are observed including the production of biochemically active compounds that directly kill or inhibit pathogens. Women suffering from endometriosis lead an impaired quality of life and continue to deal with endometriosis-associated symptoms even after diagnosis and treatment of the disease. In endometriosis condition, adhesions are observed in the fallopian tubes and ovaries that block tubal motility and damage the oocyte-pickup. Progesterone resistance is familiar in endometriosis which changes the implantation window period causing the loss of implantation markers and finally leading to infertility. Malignant tumours of ovaries have also been identified and known to arise from endometriosis. Microbiome can be used as a novel diagnostic tool for endometriosis as there is a variation observed in the composition and distribution along the female reproductive tract of healthy women and endometriosis patients. A non-invasive diagnosis is achieved through this, aiming at early diagnosis and alternative treatment for endometriosis.

scholarly journals Renal abnormalities associated with Mayer-Rokitansky-Küster-Hauser syndrome

Folia Medica ◽  
2021 ◽  
Vol 63 (5) ◽  
pp. 815-818
Author(s):  
Emil Dorosiev ◽  
Galya Muzikadzhieva ◽  
Boris Mladenov ◽  
Ivan Stoev ◽  
Dimiter Velev
Keyword(s):  
Detailed Examination ◽  
Upper Urinary Tract ◽  
Primary Amenorrhea ◽  
Imaging Studies ◽  
Mrkh Syndrome ◽  
Rare Congenital Disorder ◽  
Dj Stent ◽  
Renal Abnormalities

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder affecting female reproductive system (agenesis of uterus and upper part of vagina) alone (type 1), or associated with abnormalities of other organs and systems (type 2). We report a case of a 21-year-old woman diagnosed with MRKH due to primary amenorrhea during puberty and operated for formation of neovagina. She was admitted to the Department of Urology with abdominal pain and oligoanuria, where the physical examination and imaging studies revealed a malformation of the upper urinary tract: a solitary dystopia of kidney in the pelvis with stenosis of ureteropelvic junction and hydronephrosis. After initial desobstruction with a DJ stent, a pyeloplasty was performed. Females with primary amenorrhea are often delayed with the diagnosis of potential MRKH syndrome, and those diagnosed with the syndrome should undergo detailed examination to exclude concomitant urinary abnormalities.

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