Mayer-Rokitansky-Küster-Hauser Research Articles

Magnetic resonance imaging for proper diagnosis and management of Müllerian duct anomalies

The objective of this study was to highlight the importance of magnetic resonance imaging (MRI) in achieving an accurate early diagnosis and facilitating precise treatment planning for Müllerian duct anomalies (MDAs). To discuss this topic, we present two case reports.Case 1: a 19-year-old nulliparous female presented with primary amenorrhea and normal secondary sexual characteristics. Vaginal inspection revealed a shortened vagina, but no discernible cervix. Transvaginal ultrasound (US) subsequently showed an oval structure initially thought to be the cervix, but no visible uterus or ovaries. MRI eventually confirmed a diagnosis of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, with an absence of a uterus, cervix and upper section of the vagina, and the presence of a median fibrous remnant. Case 2: a 24-year-old nulliparous female presented with severe dysmenorrhea and uterine tenderness upon physical examination. Initial US evaluation pointed to bilateral hydrosalpinx. Pelvic MRI finally confirmed a left unicornuate uterus with a rudimentary non-communicating right cavity and associated hematosalpinx. The patient underwent surgical removal of the right rudimentary horn and fallopian tube.These cases demonstrate how MRI yields a much more detailed evaluation of the anatomy of the pelvic region. Early diagnosis and appropriate treatment can significantly reduce the risk of complications and enhance outcomes.

Self-esteem, depression, anxiety and sexual function in Mayer-Rokitansky-Küster-Hauser syndrome with neovagina: A case series

BackgroundThe Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare condition with significant psychological implications. However, our understanding of its impact on postoperative sexual function and mental health is still limited. AimEvaluate the mental health status and sexual functioning of women with MRKH syndrome after vaginoplasty surgery. MethodsWe enrolled 53 cases with MRKH syndrome who underwent artificial vaginoplasty. The participants were asked to participate in a two-round survey conducted between February 2021 during the covid-19 period and March 2023. The survey included questionnaires to measure depression, anxiety, self-esteem, and sexual functioning. Differences between scores over time were analysed using a paired sample t-test, and we assessed the correlation between mental health and sexual functioning. ResultsIn the first round, patients’ mean ± SD age at surgery was 23.6 ± 4.5 years old, and the mean ± SD time that had elapsed since surgery at the time of the survey was 34.2 ± 20.8 months. None of the patients reported low self-esteem, 45.3 % reported mild-to-moderate depression, and 34.0 % reported mild anxiety. Thirty patients have had vaginal intercourse during the last six months. The mean ± SD Female Sexual Functioning Index score was 24.6 ± 4.4, and 60.0 % had a score of 23.5 or higher, indicating high sexual functioning. The sexual functioning scores were positively correlated with self-esteem scores and negatively correlated with depression or anxiety scores (p < 0.05). There was no significant improvement in patient's mental health status and sexual function between the second round survey (71.3 ± 17.8 months after surgery) and the first round survey (p > 0.05). In contrast, the sexual arousal of FSFI were significantly higher in the second survey round (p < 0.05). ConclusionMost patients undergoing vaginoplasty reported persisting mental health challenges. However, the majority reported good sexual functioning.

Classification and treatment of vaginal strictures at the donor-recipient anastomosis after uterus transplant

To describe the incidence and management of vaginal stricture after uterus transplantation (UTx) in the US, to propose a grading system to classify stricture severity, and to identify risk factors for stricture formation. Prospective cohort study. University Hospital. Recipients undergoing UTx from 2016-2023 at Baylor University Medical Center in Dallas, Cleveland Clinic, the University of Pennsylvania, and the University of Alabama at Birmingham were monitored postoperatively with regular pelvic examinations. Stricture was defined as vaginal narrowing of <3 cm in patients with graft survival of at least 7 days. Demographic and surgery characteristics. Stricture development and severity (grade 1 for diameter 2-<3 cm, grade 2 for 1-<2 cm, or grade 3 for <1 cm). Of the 45 UTx from 2016-2023 (16 deceased donors and 29 living donors), 3 were excluded from the analysis because of graft loss within 7 days. Of the 42 remaining recipients, 39 (92.9%) had Mayer-Rokitansky-Küster-Hauser syndrome and 3 (7.1%) had a prior hysterectomy. Twenty-eight (66.7%) UTx recipients developed postoperative vaginal strictures with a median time to stricture of 33 days (interquartile range 19-53 days). Most strictures were of moderate severity, with 4 (14.3%) strictures categorized as grade 1, 19 (67.9%) as grade 2, and 5 (17.9%) as grade 3. History of Mayer-Rokitansky-Küster-Hauser syndrome and preoperative recipient vaginal length were significant risk factors for stricture, after adjustment for donor and recipient age and body mass index, anastomosis technique, total ischemia time, center, and year. Patients with longer preoperative vaginal length had a lower risk of stricture (hazard ratio 0.45, 0.29-0.70). The severity grading of the stricture was associated with the effectiveness of a nonoperative treatment approach (grade 1 vs. grade 3). No patients with grade 3 strictures improved with self-dilation alone; all required surgical repair and/or dilation under anesthesia. Conversely, for grade 1 or 2 strictures, self-dilation alone was successful in 47.8% (11/23), and no grade 1 strictures required surgical repair. Vaginal stricture is a common postoperative complication after UTx, affecting >65% of recipients. Short preoperative vaginal length and history of müllerian agenesis in the recipient are significant risk factors. Vaginal self-dilation was effective for some mild to moderate strictures, although dilation under anesthesia or surgical repair was required in most cases. Dallas UtErus Transplant Study (DUETS) at Baylor University Medical Center (NCT02656550), Uterine transplantation for the treatment of uterine factor infertility at the Cleveland Clinic (NCT02573415), The University of Pennsylvania Uterus Transplant for Uterine Factor Infertility Trial (UNTIL) (NCT03307356).

Clinical features and management of women with Mayer-Rokitansky-Küster-Hauser syndrome in a Thai population.

This study aimed to describe the clinical features, associated extragenital anomalies, and management of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a Thai population. This retrospective study analyzed the medical records of 96 patients with MRKH syndrome diagnosed and treated at a university hospital and tertiary referral center in southern Thailand between 2000 and 2022. The study included 96 patients with MRKH syndrome. The most common symptom was primary amenorrhea (88.5%), followed by difficulty or inability to engage in sexual intercourse (9.4%) and pelvic mass (2.1%). Notably, 80.3% of the patients did not have extragenital malformations and were diagnosed with MRKH type I (typical form), whereas 19.7% were categorized as MRKH type II (atypical form). Skeletal malformations were the most frequent extragenital anomalies and were present in 19.5% of patients, with scoliosis being the most common skeletal condition. Other extragenital malformations included renal (8.5%) and neurological (1.0%) abnormalities. Clinical vaginal examination revealed complete atresia in 21.8% and vaginal hypoplasia (median vaginal length, 3 cm) in 78.2% of the patients. Half of the patients did not receive treatment because they had not engaged in sexual intercourse. In this cohort, 41.7% of the patients had no difficulty performing sexual intercourse. Hence, self-dilation therapy or concomitant dilation was recommended. Only eight patients (8.3%) underwent surgical reconstruction of the vagina. This study confirmed the complexity and heterogeneity of the phenotypic manifestations of MRKH, including the degree of vaginal atresia and types and rates of associated malformations.

Understanding the Diagnostic Odyssey of Women with Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in Denmark: A Qualitative Interview Study

The diagnosis of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is often a lengthy process that typically occurs during late adolescence. To support optimized and patient-centered care, this study aimed to investigate how women with MRKH syndrome experience the diagnostic process. From January 2021 to March 2021, we conducted in-depth interviews with 18 Danish women (≥25 years) diagnosed with MRKH syndrome. The interviews lasted a median of 92 minutes (range: 67-117). Data were analyzed using thematic analysis. As teenagers or young women at the time, all women had experienced the diagnostic process in the nonspecialized healthcare sector as deeply upsetting due to distressing gynecological examinations, use of inappropriate language, and considerable diagnostic delay. When reaching the specialized health care sector, questions could finally be answered, but this information and support did not significantly alter their feelings of being "deviant" or "flawed". The women continued their diagnostic odyssey beyond the health care system and found online communities that gave them valuable support in living with MRKH syndrome. Women experience the diagnostic odyssey of MRKH syndrome as upsetting and potentially traumatizing beyond the diagnosis. Healthcare professionals can influence young women's understanding and experience of MRKH syndrome by using inclusive language (eg, avoiding "deformity") and addressing all that is normal and functioning (eg, external genitalia and potential for sexual pleasure). In nonurgent conditions, young women should be given the choice to delay a genital examination.

A NOVEL FABRICATION TECHNIQUE OF PROSTHETIC HOLLOW VAGINAL STENT FOR A CASE OF MAYER–ROKITANSKY–KUSTER–HAUSER SYNDROME

Vaginal stents are most widely employed in the management of maintaining the patency of neovagina in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Although several methods are available for the fabrication of vaginal stents, hardly any techniques are described in the literature to date to make the vaginal stent prosthesis hollow. This article presents a novel simple and cost-effective technique for fabricating custom hollow vaginal stent prostheses for patients with MKRH syndrome. This dental technique offers a convenient removable treatment option for maintaining the patency of the neovagina and is a very straightforward, reasonably simple, and cost-effective method for making vaginal stents.

Magnetic Resonance Imaging Findings in Mayer- Rokitansky-Küster-Hauser (MRKH) Syndrome: A Report of Two Cases

Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a kind of Müllerian duct anomaly characterized by the absence or underdevelopment of the uterus and the top two-thirds of the vagina. MRKH syndrome is characterized by primary amenorrhea in young women who exhibit typical development of secondary sexual characteristics and normal external genitalia. These individuals have normal and functioning ovaries and a karyotype of 46, XX. Gonadal dysgenesis is the most prevalent cause of primary amenorrhea, followed by this condition. This case report aims to elaborate on MRI findings in females with typical and atypical types of MRKH syndrome. Case Description: The authors describe two female patients who presented with primary amenorrhea, normal external genitalia, and typical secondary sexual characteristics. These patients underwent MRI to identify the uterine and vaginal structure and additional non-gynaecologic abnormalities. Conclusion: MRI is the best imaging technique for the accurate evaluation of pelvic anatomy, uterine aplasia, uterine development, vaginal structure, and location of the ovaries, hence essential in the diagnosis, classification, and surgical planning of MRKH syndrome.

Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic Review.

Infertility affects around 1 in 5 couples in the world. Congenital absence of the uterus results in absolute infertility in females. Müllerian agenesis is the nondevelopment of the uterus. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a condition of uterovaginal agenesis in the presence of normal ovaries and the 46 XX Karyotype. With advancements in reproductive techniques, women with MA having biological offspring is possible. The exact etiology of MA is unknown, although several genes and mechanisms affect the development of Müllerian ducts. Through this systematic review of the available literature, we searched for the genetic basis of MA. The aims included identification of the genes, chromosomal locations, changes responsible for MA, and fertility options, in order to offer proper management and counseling to these women with MA. A total of 85 studies were identified through searches. Most of the studies identified multiple genes at various locations, although the commonest involved chromosomes 1, 17, and 22. There is also conflicting evidence of the involvement of various candidate genes in the studies. The etiology of MA seems to be multifactorial and complex, involving multiple genes and mechanisms including various mutations and mosaicism.

#382 : Congenital Adrenal Hyperplasia with Concomitant Mullerian Agenesis: A Rare Occurance in 46 XX Disorders of Sexual Development (DSD)

Background and Aims: The most common cause of 46 XX DSD is due to congenital adrenal hyperplasia with varying degree of virilization. Females with CAH do not produce anti mullerian hormone (AMH), therefore the internal genitalia, which are mullerian derivatives, are develop normally. We report a unique case of CAH with absent uterus, cervix, and fallopian tube. Method: The clinical, laboratory, and imaging findings of the patient are presented with literature review. Results: We report an ongoing case of a 20-year-old patient with ambiguous genitalia and primary amenorrhea. She was born from a healthy mother and raised as a female. There was no family history of the same disorder. On physical examination we found that she had normal height, normal blood pressure, palatoschizis, undeveloped breast (Tanner stage 1), and clitoral virilization with single urovaginal opening (Prader stage 3). We performed a G-Banded chromosome analysis, with 46 XX results. Laboratory test showed her 17-hidroxyprogesterone level was 176,93 ng/ml, FSH level was 3,06 mIU/ml, LH level was 2,21 mIU/ml, and estradiol level was 18,0 pg/mL. Ultrasound imaging revealed the absence of uterus, cervix, and vagina, as well as abnormal appearance of ovarium. We have planned to perform a complete MRI study for other anomalies as we suspected this patient had Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type II. Conclusion: In the presence of external genitalia and urinary tract malformations in patients with CAH, it is important to investigate for possible associated mullerian anomalies. A comprehensive approach in diagnosis could lead to a better outcome in a patient’s treatment and wellbeing.

A Rare Case of Lung Hypoplasia, Cardiac Anomalies and Ovarian Tumour in a Patient with Mayer-Rokitansky-Küster-Hauser Syndrome

Hypoplasia of the lung is an uncommon congenital abnormality of the respiratory system in contrast to pulmonary agenesis. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the congenital absence of the upper two-thirds of the vagina and uterus with normal secondary sexual characteristics, ovary and normal karyotype. We report a 31-year-old female patient who presented in 2022 with cough with expectoration, left-side chest pain and breathlessness for 4 years to tertiary hospital, Puducherry, India. She was evaluated for amenorrhoea and diagnosed as MRKH syndrome and the patient underwent right-side oophorectomy for right ovarian torsion with a tumour. Computed tomography pulmonary angiogram and fiberoptic endoscopy were suggestive of left lung hypoplasia and the patient was advised symptomatic treatment for lung hypoplasia and planned for vaginoplasty for which she refused. Keywords: Pulmonary Hypoplasia; Infertility; Mullerian Aplasia; Left-Sided Superior Vena Cava; Case Report; India.

Mayer–Rokitansky–Küster–Hauser syndrome

The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is an instructive story not only from a historical but also a gnoseological perspective. The mechanisms of embryogenesis as well as multiple aspects for correction of this syndrome remain enigmatic and unsolved. Here, we attempted to organize and detail striking issues related to MRKH syndrome.

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome - two cases presenting to a large UK Paediatric Endocrinology Centre

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome - two cases presenting to a large UK Paediatric Endocrinology Centre

Long-term Results of Sexual Function and Body Image After Vaginoplasty With Acellular Dermal Matrix in Women With Mayer-Rokitansky-Küster-Hauser Syndrome

To describe the long-term anatomic and sexual functional results of vaginoplasty with acellular dermal matrix (ADM) in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) and to evaluate the changes in body image pre- and postoperatively in these patients. A retrospective study from March 2015 to September 2021. A tertiary teaching hospital. Forty-two patients with MRKH syndrome who underwent vaginoplasty with ADM (the MRKH group) and 30 sexually active, nulliparous, aged-matched women (the control group). The relevant data were retrospectively collected via our electronic medical record system and were analyzed statistically. Vaginal length was assessed using a 3-cm-diameter mold. The Chinese version of the Female Sexual Function Index questionnaire was used to evaluate sexual function. The Chinese version of the modified body image scale was applied to evaluate body image. The median follow-up time was 57 months (range, 13-91 months). Granulomatous polyps in the neovagina were the most common postoperative complication (7 of 42, 16.7%). Patients with MRKH syndrome can achieve long-term satisfactory outcomes both anatomically and functionally after vaginoplasty with ADM, comparable with those of healthy control women. The vaginal length in the MRKH group was comparable to that in the control group ( 8.04 ± 0.51 cm vs. 8.15 ± 0.46 cm, respectively). The FSFI scores were similar between the MRKH (26.54 ± 3.44) and control (26.80 ± 2.23) groups. The modified body image scale score was significantly decreased after vaginoplasty with ADM. Vaginoplasty with ADM is a minimally invasive and effective procedure for patients with MRKH syndrome.

Mayer-Rokitansky-Kuster-Hauser Syndrome with Hyperandrogenemia: A Rare Case of Mullerian Dysgenesis

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome with hyperandrogenism is a variety of Müllerian duct anomalies categorized by congenital aplasia of uterus and upper part two third of the vagina usually associated with uncommonly high level of testosterone. The MRKH affects 1 out of 4500 women and it is the most common causes of primary amenorrhea, however there are only 4 cases reported of MRKH syndrome with hyperandrogenemia in literature2. The MRKH syndrome usually remains asymptomatic up until the patient complains with primary amenorrhea nonetheless with normal secondary sexual physical development. We reported a case of a 21-year-old female with MRKH syndrome with hyperandrogenism who presented with primary amenorrhea, physical examination include tanner stage 5 breasts, short vaginal canal, pubic hair stage 4 with absence of cervix, and no clitoromegaly. Transvaginal ultrasound shows an infantile uterus while MRI shows small uterus with inactive endometrium with an incidental findings of Tarlov cyst. Counseling, assurance and supportive psychotherapy were given to the patient. Follicle stimulating hormone, chest X-ray, 75 gram oral glucose tolerance test, BUN, creatinine, audiogram and electrocardiogram results were reported with normal ranges. Chromosomal analysis was 46 XX karyotype. Serum testosterone was markedly elevated at 11.1 nmol/L, above the normal values for female.

FRI412 A Case of 46,XX Gonadal Dysgenesis With Mayer-Rokitansky-Küster-Hauser Syndrome And Primary Hypothyroidism

Abstract Disclosure: S. Al Allawi: None. R. Osman: None. Introduction: The association between Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and gonadal dysgenesis is rarely reported in the literature. Coexistence of hypothyroidism with this condition is scarce and clinical correlation remains unclear. We describe a case of this rare clinical entity in conjunction with primary hypothyroidism. Clinical case: A 27-year-old Female with a medical history of primary hypothyroidism was referred to our clinic for evaluation of primary amenorrhea. She was born with a female phenotype. Growth was appropriate, but puberty was delayed with self-reported late pubarche at age 19. She never had a menstrual cycle, and had received hormonal replacement therapy (HRT) for a few months but failed to trigger menarche. However due to financial constraints, treatment was not continued. She was diagnosed with hypothyroidism since birth, for which she is currently maintained on levothyroxine 225 mcg daily. On physical exam, blood pressure was 126/72 mmHg, pulse rate 83 BPM, height 5’9”, BMI 34 kg/m2. No facial dysmorphisms or skeletal deformity were apparent. She had normal pubic and axillary hair distribution, breast budding consistent with Tanner Stage II. Genital examination revealed normal external genitalia and a blind vaginal pouch. Hormonal workup revealed hypergonadotrophic hypogonadism with estradiol &amp;lt; 0.5 pg/mL and post-menopausal range follicle-stimulating hormone (FSH) 36.7 mIU/mL. Thyroid stimulating hormone (TSH) 2.19 uIU/ml (nl 0.45-4.5 uIU/mL) and anti-TPO antibodies 10 IU/mL (nl 0-34 IU/mL). Prior thyroid ultrasound reported a small thyroid gland. Fluorescence in situ hybridization (FISH) analysis revealed 46XX karyotype. Abdominal and pelvic ultrasound showed normal kidneys with a non-visualized uterus and ovaries. Pelvic MRI confirmed the absence of both and showed a blind end vaginal pouch, leading to the conclusion of the coexistence of gonadal dysgenesis with MRKH. She was then placed on transdermal estradioltherapy. Conclusion: The association between gonadal dysgenesis (the most common cause of primary amenorrhea) and MRKH syndrome (the second most common cause) is infrequent. HRT remains the only therapeutic option. It aims to trigger the development of secondary sexual characteristics and prevent osteoporosis by allowing appropriate bone mineral accrual. Unfortunately, infertility remains the most significant consequential issue; hence the availability of good caring and psychological counseling should not be underestimated. The co-existence of likely non-immune primary hypothyroidism is even less frequent. To our knowledge, our case is the second reported case of this trilogy. Given the paucity of data, the association of this condition with primary hypothyroidism cannot be well established and can be coincidental. More studies are needed to determine if this condition has a higher prevalence of hypothyroidism. Presentation: Friday, June 16, 2023

FRI387 Reproductive Capacity Of Znhit3 Knockout Mouse Model

Abstract Disclosure: D. Kira: None. Z.A. Hawkins: None. L.P. Chorich: None. S. Brakta: None. L. Gan: None. L.C. Layman: None. Introduction: Zinc finger, HIT domain containing 3 (ZNHIT3), also known as thyroid hormone receptor-interacting protein 3 (TRIP-3), is a 155 amino acid protein with an N-terminus Zinc finger HIT domain (11-42a.a) that is involved in pre-ribosomal RNA processing. It also has a C-terminus short conserved LxxLL binding motif that interacts with the ligand binding domain of the thyroid receptor in the presence of thyroid hormone as a co-activator associated with hepatocyte nuclear factor-4α (HNF-4α). ZNHIT3 is localized to the cytoplasm and the nucleus. Biallelic ZNHIT3 pathogenic variants in the N-terminus have been identified in persons with Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy (PEHO) syndrome, a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Heterozygous pathogenic variants in ZNHIT3 affecting the C-terminus have been demonstrated in individuals with Mayer-Rokitansky-Küster-Hauser (MRKH). MRKH consists of the congenital absence of the uterus and vagina, either as isolated Mullerian aplasia (type 1) or associated with renal, skeletal, cardiac, and auditory anomalies (type 2). Previous studies of animal models utilizing morpholino injection-induced knockdown and CRISPR editing of znhit3 in zebrafish both showed cerebellar defects and microcephaly. We are not aware of a mouse model of Znhit3.Hypothesis: We hypothesize that the Znhit3 knockout (KO) mouse will demonstrate reproductive abnormalities and an MRKH-related phenotype. Methods: Heterozygous Znhit3 (Znhit3+/-) KO mice were generated by CRISPR. A 1 base deletion was introduced in exon 2, creating a frameshift and a stop codon in exon 3, which leads to a truncated protein. We then crossed male and female Znhit3+/- mice and Znhit3+/- and wild-type Znhit3+/+ (WT) mice. Pups' genotypes were confirmed with DNA sequencing of tail samples. Pups were weighed weekly from age 3 weeks to 16 weeks. Results: Mating 17 pairs of Znhit3+/- mice resulted in a total of 73 pups born, of which 50 were Znhit3+/- and, 23 were WT with a ratio of almost 2:1. No homozygous Znhit3 (Znhit3-/-) KO pups were born. There was no significant difference in weights between Znhit3+/- and WT pups. Conclusion: Heterozygous Znhit3+/- animals appeared to be phenotypically normal with similar weights to WT. However, the Hardy-Weinberg equilibrium (1 homozygous wild-type: 2 heterozygous: 1 homozygous variant) was disrupted, as no Znhit3−/− homozygotes were born, suggesting embryonic lethality. It is possible that central nervous system, cardiac, and/or renal defects could be responsible for this lethality, which will be studied in embryos at E18.5, 15.5, and 12.5. A detailed phenotypic characterization will be performed with regard to reproductive function and MRKH-related organ development. Presentation: Friday, June 16, 2023

Recurrent human 16p11.2 microdeletions in type I Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients in Chinese Han population.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a severe congenital malformation of the female genital tract, is a highly heterogeneous disease which has no clear etiology. Previous studies have suggested that copy number variations (CNVs) and single-gene mutations might contribute to the development of MRKH syndrome. In particular, deletions in 16p11.2, which are suggested to be involved in several congenital diseases, have been reported in Chinese type II MRKH patients and European MRKH patients. However, few CNVs including 16p11.2 microdeletions were identified in Chinese type I MRKH cases although it accounted for the majority of MRKH patients in China. Thus, we conducted a retrospective study to identify whether CNVs at human chromosome 16p11.2 are risk factors of type I MRKH syndrome in the Chinese Han population. We recruited 143 patients diagnosed with type I MRKH between 2012 and 2014. Five hundred unrelated Chinese without congenital malformation were enrolled in control group, consisting of 197 from the 1000 Genomes Project and 303 from Fudan University. Quantitative PCR, array comparative genomic hybridization, and sanger sequencing were conducted to screen and verify candidate variant. Our study identified recurrent 16p11.2 microdeletions of approximately 600 kb in two out of the 143 type I MRKH syndrome patients using high-density array-based comparative genomic hybridization (aCGH), while no 16p11.2 deletion was found in the control group. We did not find any mutations in TBX6 gene in our samples. The results of the study identify 16p11.2 deletion in Chinese MRKH I patients for the first time, as well as support the contention that 16p11.2 microdeletions are associated with MRKH syndrome in both types across populations. It is suggested that 16p11.2 microdeletions should be included in molecular diagnosis and genetic counseling of female reproductive tract disorders.

Issues of identity, perceptions and isolation: An interpretative phenomenological analysis of women's experience of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

The objective of this study was to explore the personal experience of women with MRKH, a rare condition characterised by congenital abnormalities of the genital tract. There are very few qualitative studies into the lived experiences of women with MRKH. Interviews were conducted with 13 women with MRKH and analysed using interpretative phenomenological analysis. Four superordinate themes are discovered: maintaining a viable female identity; acceptance and coping; normality, secrecy and shame and the isolating impact of a lack of knowledge amongst the medical profession. This study also suggests that societal ideals of a 'normal woman' are influencing how MRKH impacts on the self-experienced psychological health. It is suggested that the psychological wellbeing of women with MRKH could be improved with continued multidisciplinary support beyond the initial diagnosis and alongside any vaginal correction.

Mayer rokitansky kuster hauser syndrome with pituitary hypoplasia A rare case report from Pakistan

Mayer Rokitansky Küster Hauser Syndrome MRKH is a rare disorder characterized by congenital absence of the uterus and upper two thirds of the vagina in individuals with normal secondary sexual characteristics.

Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways

Rubinstein-Taybi syndrome (RSTS) is a multi-system neurodevelopmental condition caused by deficiency of CREBBP (16p13.3) or EP300 (22q13.2). Müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is defined as congenital agenesis of the uterus, cervix, and upper vagina without a definite genetic cause. We present a 14-year-old female with RSTS type 1 (CREBBP, c.4395-2A>C) and MRKH, the first documented in the literature. Following presentation to Gynecology for anticipatory guidance regarding future menstrual suppression and follow-up of previously diagnosed labial adhesions, exam under anesthesia revealed a single urogenital opening with cystoscopy demonstrating a normal urethra and bladder. Laboratory evaluation was consistent with peripubertal female gonadotropins and estradiol, 46,XX karyotype, and normal microarray, and a pelvic MRI confirmed Müllerian agenesis. Given this case, we assessed our cohort of females with RSTS and found that 4 of 12 individuals also had Müllerian anomalies. Gynecologic evaluation should be a part of medical care for females with RSTS, particularly in individuals with delayed menarche or abnormal menstrual history, on the basis of the observed association between RSTS and Müllerian anomalies in this case series. Although several candidate genes and copy number variants are associated with MRKH, no candidate genes in close proximity to the 16p13.3 region have been identified to explain both RSTS and MRKH in the index patient. Due to the regulatory nature of CREBBP during embryonic development, we theorize that CREBBP may play a role in the migration of Müllerian structures during embryogenesis.