Hypoplastic Uterus Research Articles

Murcs Association: A most severe form of Mayer-Rokitansky-Küster-Hauser Syndrome, case report and literature review

BACKGROUND Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital abnormality of sexual development characterized by an aplastic or hypoplastic uterus, as well as the absence of the cervix and the upper third of the vagina. It may be limited to the reproductive tract (MRKH type 1), or in association with abnormalities of the extragenital tract, usually of renal and skeletal origin (MRKH type 2). The presence of a pattern of multiple anomalies has been described, specifically characterized by aplasia of the Müller ducts (MU), renal aplasia (R), and alterations of the cervicothoracic somite (CS), which has been called the MURCS association. METHODOLOGY A search was performed in the Medline database via PubMed using the following terms: “Mayer–Rokitansky–Küster–Hauser Syndrome”, “Mullerian anomalies”, “genetics of agenesis/hypoplasia of the uterus and vagina”, “uterine cervical aplasia and agenesis”, from 1979 to 2023, a total of 316 studies were found, 58 studies were selected that included women with a diagnosis of MRKH or MURCS association. CASE REPORT A 34-year-old woman attends a gynecologist evaluation presenting primary amenorrhea, with external genitalia with normal development, but has multiple spinal abnormalities. The image reports the absence of the uterus and the superior two-thirds of the vagina, renal aplasia, scoliosis, and cervical, thoracic, and lumbar spinal abnormalities. CONCLUSIONS Mullerian abnormalities are a set of abnormalities of sexual development in which the development of the uterus, fallopian tubes, and vagina are mainly affected. Within this group, there is MRKH syndrome. In these variants of GREB1L (estrogen growth regulation gene in breast cancer type 1 gene), variants have been reported in familiar cases of bilateral renal agenesis. Establishing the cause of these clinical entities is controversial, making it difficult to deny or affirm whether the atypical forms of the MRKH syndrome and the MURCS association belong to the same phenotypic spectrum originating from common or related causes or simply different entities.

Comprehensive management of Mayer-Rokitansky-Küster-Hauser syndrome management: A case report.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian aplasia, is a congenital condition characterized by uterine and upper vaginal aplasia. It affects females with a normal female karyotype and typical secondary sex characteristics. The aim of this case report was to highlight the multidisciplinary management approach for MRKH syndrome, focusing on tailored interventions to address physical and psychological challenges and improve reproductive prospects. A 26-year-old married female presented to Acharya Vinoba Bhave Rural Hospital (AVBRH), Sawangi, Wardha, India, in January 2023 with primary amenorrhea. Physical examination revealed a blind vagina and a hypoplastic uterus, indicative of MRKH syndrome. Further evaluation, including pelvic magnetic resonance imaging (MRI), confirmed Müllerian duct abnormalities and bilateral ovarian anomalies. The absence of a functional vagina significantly impacted the patient's quality of life, leading to difficulties with sexual intercourse and emotional distress related to infertility. A collaborative approach involving a gynecologist and a psychiatrist at AVBRH was initiated to address these challenges. The patient underwent vaginoplasty to create a neovagina, enhancing the sexual function and intimate relationship with the spouse. However, due to the hypoplastic uterus, achieving motherhood through traditional means was not possible. Therefore, assisted reproductive techniques, in particular surrogacy, were explored. Normal, functional ovaries were harvested from the patient for use in surrogacy procedures. This comprehensive management strategy exemplifies the challenges associated with MRKH syndrome and underscores the importance of tailored interventions and long-term follow-up. The case highlights the significance of collaborative care in improving the quality of life and reproductive prospects for individuals with MRKH syndrome.

Multiple urogenital abnormalities and urine incontinence in a sexually ambiguous goat (Capra aegagrus hircus)

AbstractA 6‐month‐old, phenotypic, male Nigerian dwarf goat presented after bilateral abdominal gonadectomy for persistent urinary incontinence. Physical examination revealed a caudally positioned cliteropenis with an abnormally enlarged urethral opening. Abdominal ultrasound and computed tomography revealed a fluid‐filled structure dorsal to the urinary bladder. The structure was removed by caudal midline laparotomy. Communication between the structure and proximal urethra was confirmed in surgery. Unexpected separation of the structure from the urethra in surgery necessitated normograde catheterisation through a cystotomy to pull a catheter retrograde into the bladder. Histopathology confirmed the structure as a hypoplastic uterus. The goat regained normal urine continence following surgery.

A RARE CASE OF OVARIAN AGENESIS AND HYPOPLASTIC UTERUS IN A PREPUBERTALGIRL WITH NORMAL 46, XX KARYOTYPE

Delayed onset of puberty and primary amenorrhea pose diagnostic challenges, often associated with diverse etiologies including hypothalamic-pituitary disorders, gonadal dysgenesis, and müllerian duct malformations.Historically, such syndromes have been associated with XY chromosomal components, but rare cases in karyotypically normal females (46, XX) have been reported. Comparisons with similar cases, including atypical forms of Mayer-Rokitansky-Küster-Hauser (MRKH) syndromeare made, highlighting the rarity of this condition. Despite advancements, the genetic basis remains unspecified, underscoring the need for further research. We present a unique case of gonadal agenesis and hypoplastic uterus in a 46,XX individual, without associated organ system anomalies, contributing to primary amenorrhea. Diagnostic evaluations including hormonal assessment, and pelvic MRI confirmed the absence of ovaries and severe hypoplasia of paramesonephric duct (PMND) derivatives. Treatment with 17beta estradiol successfully induced puberty, highlighting the clinical importance of timely intervention. Early detection of such cases is crucial for providing comprehensive support and improving patient outcomes.

Beyond anatomy: I don’t have a uterus, what now? Case report and literature review

Rokitansky - Küster-Hauser syndrome (MRKH) is characterized by agenesis or aplasia of the uterus and upper part of the vagina and is considered the second most common cause of primary amenorrhea. The psychological repercussions are significant and are directly related to sexual and reproductive health. This work reports the case of a teenager with MRKH and reviews the syndrome and the main factors that impact mental health. Case description: Adolescent 14 years old, female, absence of menarche, sexual life not initiated, Tanner M5P5. Pelvic ultrasound with hypoplastic uterus, magnetic resonance imaging of the pelvis with non-individualized uterus, unidentified vagina and ovaries with normal topography and morphology. Diagnosed with MRKH and has no desire to perform vaginal dilation. He has difficulty talking about the syndrome and aspects of his sexual life. She appeared sad and felt inadequate, especially after her father told her she was "less of a woman." Discussion: MRKH is the second most common cause of primary amenorrhea and its psychosocial impact is relevant. Historically, the uterus is described as primordial in female identity and menarche is an important milestone in puberty in girls. People with the syndrome tend to present more anxious and depressive symptoms, image disturbances, influencing self-esteem and identity construction. Conclusion: The diagnosis of MRKH involves several factors that go beyond anatomical changes. Therefore, it is essential to include emotional aspects in the clinical approach, aiming to improve sexual, reproductive and mental health and, above all, the quality of life of these people.

THU184 Varying Presentations Of 46XX OTD

Abstract Disclosure: I. Mishra: None. S.K. Sahoo: None. A.K. Baliarsinha: None. Ovotesticular disorder of sex development (OT-DSD) is a condition associated with presence of both testicular and ovarian tissue in same individual, in which these tissues may co-exist either in the same gonad or independently. 46 XXOTD are most common. We describe 3 cases of 46 XXOTD presenting in their post pubertal years with varied presentation. Case 1: 19 year old reared as male presented with peripubertal gynaecomastia and cyclical pain abdomen. On examination there was symmetrical genitalia, non palpable gonads, microphallus, single genital opening below phallus (Prader 3), pubic hair stage 4, axillary hair stage 3 and breast stage 5. Biochemical evaluation revealed serum testosterone (19 ng/dl), 17-hydroxy progesterone (1.7ng/ml), LH (2.6IU/L), FSH (8.6IU/L) and E2(112pg/ml). Karyotype 46XX, FISH SRY negative. USG abdomen s/o uterus like structure with absent wollfian remnants. Post laproscopy histopathology s/o bilateral ovotestis, normal ovarian stroma with hyalinized seminiferous tubule, sertoli cells and leydig cells. Case 2: 18 year old reared as male presented with peripubertal gynaecomastia and genital ambiguity. On examination there was asymmetrical genitalia, palpable right scrotal gonads, phallus, single genital opening at base of phallus, pubic hair stage 4, axillary hair stage 3 and breast stage 5. Biochemical evaluation revealed serum testosterone (110ng/dl), LH (4.6IU/L), FSH (11.2IU/L) and E2(46pg/ml). Karyotype 46XX.USG abdomen s/o hypoplastic uterus like structure with possible ovary in left side of pelvis, hypoplastic testis in right scrotal sac. Post laproscopy histopathology was s/o left dysgenetic ovary, and hypoplastic uterus. Case 3: 17 year old reared as male presented with peripubertal gynaecomastia. On examination there was symmetrical genitalia, non palpable gonads, microphallus, single genital opening at the base of phallus (Prader 4), pubic hair stage 4, axillary hair stage 2 and breast stage 4. Biochemical evaluation revealed serum testosterone (98ng/dl), 17-hydroxyprogesterone (0.58ng/ml), LH (4.05IU/L), FSH (7.12IU/L) and E2 (96 pg/ml). Karyotype 46XX, FISH SRY positive. USG abdomen s/o uterus like structure with apparent left ovary and non visualization of right gonads. Post laproscopy histopathology s/o rudimentary uterus, left ovary with follicles and right gonads showing semineferous tubules with sertoli cells and few hyperplastic leydig cells. 46 XX OTDSD presents with wide phenotypic variability, which influences decisions about gender assignment and need of surgery. Conservative therapy, whenever feasible, is desirable to achieve fertility. Multidisciplinary team approach is required for healthy physical and psychological well-beings of these individuals. Presentation: Thursday, June 15, 2023

Swyer syndrome: a rare cause of primary amenorrhea

PurposeSwyer syndrome is one of the rare causes for disorders of sexual development.Case reportAn 18-year-old girl presented with complaints of inability to attain menarche. Physical examination revealed underdeveloped breast with absent pubic and axillary hair; however, the vagina was well canalized. Her hormonal profile was of hypergonadotropic hypogonadism. USG and MRI demonstrated hypoplastic uterus with very small ovaries. Chromosomal analysis reported 46 XY genetic makeup. Given the higher risk of malignancy in dysgenetic gonads, the patient underwent laparoscopic gonadectomy and had been put on hormone replacement therapy.ConclusionSwyer syndrome, though a very rare entity, should be kept in mind while evaluating primary amenorrhea. Gonadectomy should be performed early once diagnosis is made to avoid the risk of malignancy.

Ayurvedic Intervention in the Management of Premature Menopause

ABSTRACT Menstruation is a cyclic physiological process of uterine bleeding due to the shedding of the endometrium. A normal menstrual cycle plays an essential role in maintaining the woman’s health status during reproductive age. Premature menopause is defined as the cessation of menstruation at or below the age of 40. Premature ovarian failure (POF) is defined as when an ovarian failure occurs before the age of 40. The prevalence of premature ovarian insufficiency is estimated at 1% in the general population. The present case report documents the efficacy of Ayurvedic medication in a female aged 24 years who had commencement of menstruation after 4 years of amenorrhea postovarian cystectomy. The left ovary of the patient was removed during the surgery, and a small hypoplastic right ovary and uterus were visible in the ultrasonography. The levels of luteinizing hormone, follicle-stimulating hormone, and estradiol hormone in the patient were equivalent to postmenopausal individuals. She was also suspected of POF. The Ayurvedic management included Shamana Aushadh, Yoga, and Pathya Ahara Vihara for 3 months. The menstruation was visible after 1 month of Ayurvedic medication. The follow-up was done for 3 months. A marked improvement was also noted in the general health of the patient along with regularity in the menstrual cycle each month.

Clinical profile and cytogenetic correlations in females with primary amenorrhea.

This study was conducted to investigate chromosomal abnormalities and their correlations with clinical and radiological findings in females with primary amenorrhea (PA). Detailed forms were recorded for 470 females, including the construction of three-generation pedigrees. Peripheral venous blood was drawn, with informed consent, for cytogenetic analysis. An abnormal karyotype was found in 16.38% of participants. The incidence of structural abnormalities (6.8%) exceeded that of numerical abnormalities (6.15%). Turner syndrome represented 45% of all numerical abnormalities. Furthermore, the Y chromosome was detected in 5% of females with PA. Among the structural chromosomal abnormalities detected (n=32) were mosaicism (25%), deletions (12.5%), isochromosomes (18.75%), fragile sites (3.12%), derivatives (3.12%), marker chromosomes (3.12%), and normal variants (29.125%). An examination of secondary sexual characteristics revealed that 29.6% of females had a complete absence of breast development, 29.78% lacked pubic hair, and 36.88% exhibited no axillary hair development. Radiological findings revealed that 51.22% of females had a hypoplastic uterus and 26.66% had a completely absent uterus. Abnormal ovarian development, such as the complete absence of both ovaries, absence of one ovary, one absent and other streak, or both streak ovaries, was observed in 69.47% of females with PA. Additionally 43.1%, 36.1%, 67.4%, and 8% of females had elevated levels of serum follicle-stimulating hormone, luteinizing hormone, thyroid-stimulating hormone, and prolactin, respectively. This study underscores the importance of karyotyping as a fundamental diagnostic tool for assessing PA. The cytogenetic correlation with these profiles will aid in genetic counseling and further management of the condition.

Magnetic resonance imaging in patients of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome presenting with primary amenorrhoea: a prospective study

BackgroundThis study aims to characterize the spectrum of imaging findings in patients of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome presenting with primary amenorrhoea.Objectives(1) To aid in clinical diagnosis of MRKH syndrome. (2) To detect the associated non gynecological anomalies. (3) To arrive at optimal management options.ResultsThis prospective observational study was performed in 14 subjects who presented with primary amenorrhoea and diagnosed as MRKH on MRI from 1st January, 2021 to 30 June, 2022. Out of 14 patients, 4 patients showed hypoplastic uterus while remaining 10 showed complete uterine agenesis. Mean volume of hypoplastic uterus was 5.3 ml. Out of 10 patients with complete uterine agenesis, 9 showed bilateral rudimentary uterine buds connected by a fibrous band while 1 showed unilateral bud. 3 uterine buds showed three layered zonal differentiation of which 2 showed blood within lumen suggesting functioning endometrium. 1 uterine bud was located outside pelvis. Bilateral ovaries were noted in all 14 patients of which 4 ovaries were located outside pelvis and 1 ovary showed endometrioma within. 10 patients showed complete agenesis of proximal 2/3rd of vagina. Among non-gynecological findings, 2 showed unilateral renal agenesis and 1 showed unilateral hypoplastic kidney. 1 patient showed dorsal dermal sinus.ConclusionsThe findings in MRKH patients varies from complete uterine agenesis with rudimentary uterine buds or normal positioned hypoplastic uterus. The uterine buds can be functional with collection within endometrium and could lead to endometrioma formation due to retrograde menstruation. Ovaries and uterine buds can have an extra-pelvic location.

Keratoconus in association with Mullerian dysgenesis – A case report

Keratoconus (KC) is a multifactorial disease with numerous associated systemic disorders. Hormonal dysfunction is commonly identified as a risk factor in the progression of KC. However, KC is very rarely known to be associated with congenital uterine anomalies. We present a case report of a 34-year-old female diagnosed with bilateral KC with hypoplastic uterus and septate vagina, albeit with normal sex hormonal parameters. Recognizing the existence of this rare association will encourage the diagnosis of such cases in futurity. Also, it is mandatory to do karyotyping in these cases to rule out the risk of developing gonadoblastoma.

PMON226 Primary Ovarian Insufficiency: A Case of a Missed Puberty

Abstract Premature Ovarian Insufficiency (POI) is a loss of ovarian function in women less than 40 years old. We present a case of a female with primary amenorrhea due to autoimmune primary ovarian insufficiency (APOI), in which diagnosis was delayed as she had normal breast and pubic/axillary hair development. A 18-year-old female presented to endocrine clinic for evaluation of primary amenorrhea and hypoplastic uterus and ovaries. During her regular follow ups with her pediatrician it was noted that she had not undergone menarche but since her breast development was normal, further evaluation was not pursued. She had a complicated social history and missed several of her follow up appointments. However, further evaluation was done after she presented with severe pain during intercourse. During her physical exam, it was found she had a vaginal opening of 4 cm with an unpalpable cervix. She did however have pubic/axillary hair and breast development consistent with Tanner stage V. Pelvic MRI showed hypoplastic uterus/ovaries. Her lab work revealed she had a total testosterone of 28ng/dL, prolactin 11.1ng/mL, TSH 1.68iIU/mL, LH 42.2mIU/mL, FSH99.77 mIU/mL, estradiol29.36 pg/ML, AMH 3.1ng/mL. Her karyotype was 46XX. Testing for Fragile×Syndrome and 21 hydroxylase antibodies were negative. Anti-ovarian antibody (AOA) was obtained and found to be positive (1: 160). She was diagnosed with APOI and started on estrogen with a goal to increase to adult doses over 1.5-2 years. Progestins are planned to be introduced once she reaches adult doses of estrogen or develops breakthrough bleeding. Typical presentation of patients with POI is primary amenorrhea and lack of breast development during puberty. However, it is important to remember that there can be a broad spectrum of presenting symptoms with variable breast, uterine, and ovarian development as not all patients have the same degree of estrogen deficiency. This is a case of a patient with POI with hypoplastic uterus and ovaries who had Tanner V breast development. Given this patients ovarian atrophy it is likely that the majority of estrogen production originated from adrenal glands and fat cells, which contributed to the normal development of secondary sexual characteristics delaying her diagnosis. Therefore, identification of abnormal menstrual patterns in adolescence should always raise concern for POI even in the setting of normal breast and pubic/axillary hair development. POI is due to premature deprivation of estrogen with subsequent amenorrhea and compensatory elevations in FSH/LH. Early diagnosis of this condition can prevent potential health complications in such as decreased bone mineral density, psychological complications, and extremely painful intercourse as our patient had. It is important to note that fertility in patients with POI is also unpredictable, however earlier diagnosis/treatment can improve fertility preservation, especially in women with normal AMH levels such as this patient. Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.

An Ultrasonographic Assessment to Document the Prevalence of Various Congenital Uterine Anomalies and their Probable Clinical Outcome in the Eastern Uttar Pradesh Region

Background: Uterine anomalies arise from abnormal fusion of paramesonephric ducts or failure of apoptosis of septum between two ducts leading to abnormal division of the uterine cavity. Initial dearth of universal standard diagnosis was the reason for the improper reporting of the data associated with prevalence of uterine developmental anomalies. But now various authors have reported the prevalence of uterine anomalies using standard diagnostic techniques. The objective of the study was to assess the prevalence of various uterine congenital anomalies among women of reproductive age (15–45 years) with no previous uterine pathology. Methodology: An ultrasound was utilized to take a transabdominal sonographs of both longitudinal and transverse planes from the supine position of participants who were made to consume 500–1000 mL of water to promote diuresis for the duration of the scan. Scans were then interpreted. Results: From a study of 200 participants whose mean age group fell around 30 ± 8 years, 140 of the women were parous and 60 were nulliparous. Twelve of the participants displayed anomalies that included bicornuate, arcuate, and septate. Five cases of the bicornuate uterus (2.5%), four arcuate uterus (2.0%), and three septate uterus (1.5%) were noted. Conclusion: From a sample size of 200, the occurrence of uterine anomalies is 6%, with no cases of uterine agenesis or a hypoplastic uterus.

A RARE CASE OF SECONDARY AMENORROHEA WITH SWEYERS SYNDROME: A CASE REPORT

Sweyers syndrome or pure gonadal dysgenesis is characterised by primary amenorrhea , presence of female phenotype, female external genitalia and female internal genitalia with hypoplastic uterus and streak gonads. A 16 year old girl presented with secondary amenorrhoea, she attained menarche at 11 years and was followed by 4 months of regular cycles thereafter developed two years of amenorrhea. On examination she is phenotypically female with no secondary sexual characteristics, external genitalia is female. Laboratory investigations showed a high level of serum follicle stimulating hormone, Luteinising hormone which were consistent with hyper gonadotropic hypogonadism, pelvic ultrasound showed a hypo plastic uterus and hypo plastic ovaries, chromosomal analysis revealed XY Karyotype. Further she underwent alaparoscopic prophylactic gonadectomy and the histopathology confirmed hypo plastic ovaries. In conclusion we emphasise that Sweyers syndrome can present with secondary amenorrhoea with a functioning uterus with lining endometrium. The importance of timely diagnosis and gonadectomy forseeing a gonadoblastoma cannot be over emphasised.

Demayo Sandra

Introduction: Usual sex determination and differentiation occurs progressively during the period of embryonic development, involving chromosomal differentiation, gonadal differentiation, and somatic or genital differentiation. Swyer syndrome is a disorder of sex chromosomes and sexual differentiation characterized by 46, XY pure gonadal dysgenesis in a phenotypically female person with primary amenorrhea, and a complete absence of functioning gonadal tissue. Gonadal malignancy occurs in 10-30% of cases, so gonadectomy is indicated at the time of diagnosis. The treatment includes, in addition to the gonadectomy, hormone replacement therapy, and psychological support. Objective: To present a case diagnosed and managed in our institution, in addition to reviewing the recent literature about this rare condition, but with a strong physical, psychological and social impact. Methods: Analysis of clinical history of a patient with Swyer's Syndrome, diagnostic and therapeutic management. Bibliographic review. Presentation of the clinical case: An 18-year-old patient attends our hospital presenting primary amenorrhea. She presents BMI: 22; Tanner stage PH III BD III, gynecological examination with vulva and vagina with normal characteristics. Hormone profile requested: FSH 96.8 mU/ml, LH 32.9 mU/ml, Estradiol <25 pg/ml; Total testosterone 0.15 ng/ml. TV ultrasound shows a hypoplastic uterus of 23x11x29 mm, ovaries are not visualized, and a heterogeneous solid image of 22x23x24 mm in the left adnexal region. 46XY karyotype. In the presence of these results, a diagnosis of Swyer's syndrome is made, so an MRI was requested, which shows a uterus of 14x20x26 mm, ovaries are not visualized, a solid lobulated oval image of 23x33x47 mm poorly vascularized standing out in the left adnexal region and free inguinal canals. It was decided to perform exploratory laparoscopy and gonadectomy. The intraoperative findings were: intrapelvic hypoplastic uterus, uterine tubes without any particularities, enlarged left gonad of approximately 3x4 cm pearly white with a hard elastic consistency, and a fibrous band in the right adnexa. Bilateral adnexectomy was performed, obtaining as a histological result well-differentiated left dysgerminoma SALL4 +, OCT3/4 +, negative Inhibin and CD 117 +, and right streak gonad. Conclusions: In the presence of a person with primary amenorrhea and absence or poor development of secondary sex characteristics, Swyer's syndrome should be suspected, and pertinent studies should be requested to arrive at the diagnosis. It is essential to perform gonadectomy at the time of diagnosis due to the risk of malignant transformation. The importance of a multidisciplinary approach and psychological accompaniment of patients and relatives is highlighted.

Infantile or hypoplastic uterus? A proposal for a modification to the ESHRE/ESGE classification of female genital tract congenital abnormalities.

We argue that the graphical depiction of “infantile uterus” in the ESHRE/ESGE classification of Mullerian anomalies does not fall under class U1b, i.e. uterine corpus anomalies with a normal external contour. The verbal description of “infantile uterus” by the ESHRE/ESGE classification seems to better suit a hypoplastic uterus and as such, arguably, can be omitted from this classification. We also suggest the inclusion of a “Y shaped” uterus under Class U1.

442 A rare case of gonadal dysgenesis, 46 XY

Introduction: Pure form of gonadal dysgenesis, 46 XY - a form of malformation characterized by the presence of female genital organs: hypoplastic uterus, fallopian tubes and dysgenetic gonads, usually represented by fibrous tissue. According to the literature, the above-described pathology can form because various genetic defects at the stage of differentiation from the bipotential gonad into the testicle from 3 to 8 weeks of gestation. Methods and results: A patient with complaints of the absence of secondary sexual characteristics and menstruation, who applied to our Center in order to clarify the diagnosis.

Abstract 139: Cystic parathyroid adenoma with Mayer Rokitansky Kuster Hauser syndrome: Association or coincidence?

Introduction: Majority of cases of primary hyperparathyroidism (PHPT) are due to single gland adenoma. Cystic parathyroid adenomas are very rare. We report an unusual case of PHPT due to a cystic adenoma with Mayer Rokitansky Kuster Hauser (MRKH) Syndrome.Case Presentation: A 30-year-old woman with primary amenorrhoea presented with polyuria and bilateral renal stone disease. Biochemical investigations showed corrected calcium of 13mg/dl and parathormone (PTH) levels of 418 pg/ml. Ultrasonography of neck showed solid cystic nodule and Sestamibi scan showed nonMIBI-avid hypodense nodule in right thyroid lobe. Intracystic fluid aspirated from the lesion showed PTH of >2000 pg/ml. The lesion was surgically excised and patient achieved surgical remission. Evaluation of primary amenorrhea showed normal gonadotropins and hypoplastic uterus and upper two-thirds of vagina on magnetic resonance imaging of pelvis which was consistent with MRKH syndrome. Since literature review showed HNF1B to be associated with genitourinary abnormalities and PHPT, after patient consent sample for HNFIB mutation was sent and is awaited.Conclusion: Possibility of cystic parathyroid adenoma should be kept while localizing for PHPT as it poses a diagnostic challenge. Concurrent MRKH syndrome could be a true association or a mere coincidence.

A rare case of Mayer\u2013Rokitansky\u2013Kuster\u2013Hauser syndrome with right ectopic kidney diagnosed on MRI

IntroductionMeyer–Rokitansky–Küster–Hauser syndrome is rare congenital abnormality in females with a blind ending vagina. There can be associated hypoplasia of uterus. The syndrome is of sporadic origin and affects the reproductive life. Adequate and early diagnosis can help to rule out other associated anomalies.Case presentationWe are presenting an interesting case of Mullerian agenesis in a 16-year-old female patient who came to our gynecology department of our hospital with complaints of primary amenorrhea. On imaging, it was found that she was a case of Mayer–Rokitansky–Küster–Hauser syndrome with ectopic kidney. On physical examination, affected individuals appear normal but there was agenesis of uterus which is the common cause of primary amenorrhea. Magnetic resonance imaging findings are discussed in this article. On karyotyping and hormonal evaluation, patient hormones were in range and karyotype was 46, XX.ConclusionMRI is mainstay for diagnosis of this condition although other modalities like ultrasound can diagnose hypoplastic uterus and ectopic kidney. A rudimentary uterus hampers the reproductive functioning, and patient needs counseling for the same.

Partial Mullerian Agenesis with Renal and Skeletal Anomalies: An Observational Study of MURCS Association

Background: Müllerian agenesis is a disorder of genital development characterized by absence of the vagina, an absent or hypoplastic uterus, and normal or hypoplastic fallopian tubes. Typically, the ovaries are entirely normal, although one or both also may be undescended, hypoplastic, or associated with an inguinal hernia. Affected patients often also have urologic anomalies (15-40) % (unilateral renal agenesis, ectopic or horseshoe kidney, and duplication of the collecting systems) and skeletal malformations (5-10) %, (e.g., hemiverterbrae and scoliosis, or the Klippel-Feil syndrome). The cause is unknown, although some cases are associated with chromosomal translocations or occur in familial aggregates, suggesting a genetic basis. Logically, müllerian agenesis might be attributed to an activating mutation in the gene encoding AMH or its receptor, causing excess AMH activity, but none have been identified. Aim: The aim of this study was to analyze and present rare cases of partial mullerian agenesis combined with renal and/or skeletal malformations, their causes, clinical features, diagnosis and treatment along with review of literatures. Methods: A retrospective observational study was conducted in the department of Bangabandhu Sheikh Mujib Medical University. All four cases presented with similar type of presentation and were diagnosed as partial Mullerian aplasia (cervico-vaginal agenesis) with other associated anomalies (renal, skeletal or cardiac anomalies) ie: MURCS association. Results: We analysed four cases of mullerian agenesis with renal and/or skeletal abnormalities presented with primary amenorrhoea with cyclical lower abdominal pain. Subsequently these patients were ascertained to have cervicovaginal agenesis with renal and skeletal abnormalities by physical examination and relevant investigations. Two (50%) patients had renal anomalies in the form of renal agenesis and one small malrotated kidney while 100% patients had skeletal abnormalities. One (25%) patient had congenital cardiac anomaly, one (25%) patient had history of cleft lip and cleft palate and one (25%) patient had history of imperforated anus at birth. Evaluation included clinical examination, whole abdominal ultrasound, skeletal survey and karyotyping along with some supportive investigations. Conclusion: The management is varied but multidisciplinary approach, psychological and social supports are the key points of managing such cases.