Mayer-Rokitansky-Küster-Hauser Syndrome with Rare Findings of Crossed Fused Renal Ectopia and Ovarian Serous Cystadenoma

ABSTRACT The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome occurs in one of 4,000 to 5,000 female births and is characterized by normal development of secondary sexual, congenital aplasia of uterus and upper part (2/3) of vagina, and normal fallopian tubes and ovaries. Therefore, individuals with MRKH syndrome are at normal risk of developing ovarian neoplasms. We report a case of 19 years old unmarried female who was admitted to the hospital with pain in lower abdomen for 7 months. She was having primary amenorrhea. Gynecological examination revealed a blind vaginal pouch. Rectal examination revealed a large left-sided 8 cm cystic mass which was mobile with a smooth surface. Uterus was not palpable. Phenotypic sex was female. Breast development, axillar and pubic hair development were normal. Abdominopelvic ultrasonography showed left-sided crossed fused renal ectopia and a heterogeneous hypoechoic cystic mass with dense internal echoes on left-side. Uterus was not visualized. Intravenous pyelography also confirmed the finding of left-sided crossed fused renal ectopia. At laparotomy, a 10 × 8 cm cystic hemorrhagic ovarian mass with a single twist of pedicle was found, with a normal right ovary and bilateral tubes. A small hypoplastic unicornuate uterus was present. Cervix was absent. Left-sided Salpingo-oophorectomy was done and tissue was sent for histopathology, which revealed ovarian serous cyst adenoma. All patients with vaginal agenesis must be regarded primarily as a MRKH syndrome and they must be investigated to establish whether there were any associated congenital anomalies. How to cite this article Asnani M, Srivastava K, Inam L, Kunwar S. Mayer-Rokitansky-Küster-Hauser Syndrome with Rare Findings of Crossed Fused Renal Ectopia and Ovarian Serous Cystadenoma. J South Asian Feder Obst Gynae 2015;7(3):220-222.

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Primary Amenorrhea with Mayer-Rokitansky-Kuster-Hauser Syndrome

Open Access Macedonian Journal of Medical Sciences ◽

10.3889/oamjms.2021.6306 ◽

2021 ◽

Vol 9 (T3) ◽

pp. 175-177

Author(s):

Muhammad Rusda ◽

Delfi Lutan ◽

Mervina Andarini ◽

Andrina Yunita M. Rambe

Keyword(s):

Pubic Hair ◽

Vaginal Wall ◽

Breast Development ◽

Transvaginal Sonography ◽

Enzyme Linked Immunosorbent Assay ◽

Primary Amenorrhea ◽

Mrkh Syndrome ◽

Examination Result ◽

Mullerian Ducts ◽

Axillary Hair

BACKGROUND: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare disorder described as aplasia or hypoplasia of uterus and vagina due to an early arrest in the development of Mullerian ducts. The etiology of MRKH syndrome remains uncertain: Although at the beginning, it was mentioned that this syndrome was the result of sporadic abnormalities. It has recently been assumed the genetic background is the cause of the increasing number of familial cases. CASE REPORT: A 29-year-old female patient presented with amenorrhea. She also has normal pubic and axillary hair and breast development. Routine investigations were normal. Genitalia inspection shows that pubic hair was well developed, labia majora and vagina were seen. Inspeculo show that vaginal wall was smooth, but portio was not seen. Vaginal examination result: The uterus was unpalpable, both adnexa were normal, parametrium was laxed, and Douglas pouch was not protruded. Rectal examination shows that uterus and both adnexa were difficult to identify. Transvaginal sonography revealed absence of uterus, both ovaries within normal. Transvaginal sonography diagnosed a uterine aplasia. With this, the provisional diagnosis made as primary amenorrhea due to suspected MRKH syndrome, the patient was referred for follicle-stimulating hormone, estradiol, testosterone, and prolactin levels by enzyme-linked immunosorbent assay examination and the result was within normal limit followed by genetic karyotyping and the result was normal 46, XX. CONCLUSIONS: We report a 29-year-old woman with primary amenorrhea. From our examination, the patient was diagnosed with MRKH syndrome. Uterus transplant is an alternative for that woman to treat amenorrhea and possibility to get pregnant.

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46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation ofCYP17A1Gene: Consequences of Late Diagnosis

Case Reports in Endocrinology ◽

10.1155/2018/2086861 ◽

2018 ◽

Vol 2018 ◽

pp. 1-6 ◽

Cited By ~ 1

Author(s):

Giampaolo Papi ◽

Rosa Maria Paragliola ◽

Paola Concolino ◽

Carlo Di Donato ◽

Alfredo Pontecorvi ◽

...

Keyword(s):

Ethinyl Estradiol ◽

Tanner Stage ◽

Pubic Hair ◽

Breast Development ◽

Normal Male ◽

Primary Amenorrhea ◽

Homozygous Mutation ◽

Tall Stature ◽

Disorder Of Sex Development ◽

Sex Development

Context.Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway.Case Description.A 40-year-old Chinese woman was referred to the Endocrine Unit for the work-up of a syndrome characterized by long-lasting and multidrug resistant high blood pressure, severe hypokalemia with metabolic alkalosis, and primary amenorrhea. The patient presented with sexual infantilism, lack of breast development, absence of axillary and pubic hair, tall stature, and slenderness. CT scan revealed enlarged adrenal glands bilaterally and the absence of the uterus, the ovaries, and the Fallopian tubes. Furthermore, diffuse osteopenia and osteoporosis and incomplete ossification of the growth plate cartilages were demonstrated. Chromosomal analysis showed a normal male 46,XY, karyotype, and on molecular analysis of theCYP17A1gene she resulted homozygous for the g.4869T>A; g.4871delC (p.Y329Kfs?) mutation in exon 6. Hydrocortisone and ethinyl-estradiol supplementation therapy led to incomplete withdrawal of antihypertensive drug and breast development progression to Tanner stage B2 and slight height increase, respectively.Conclusions.We describe a late-discovered case of CAH with 46,XY disorder of sex development. Deficiency of 17α-hydroxylase/17,20-lyase due to a homozygous CYP17A1 gene mutation was the underlying cause. Laboratory, imaging, and genetic features are herein reported and discussed.

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A Case of Swyer Syndrome Associated with Advanced Gonadal Dysgerminoma Involving Long Survival

Case Reports in Oncology ◽

10.1159/000381451 ◽

2015 ◽

Vol 8 (1) ◽

pp. 179-184 ◽

Cited By ~ 2

Author(s):

Salete Da Silva Rios ◽

Isabella Christina Mazzaro Monteiro ◽

Larissa Gonçalves Braz dos Santos ◽

Natasha Garcia Caldas ◽

Ana Carolina Rios Chen ◽

...

Keyword(s):

Sex Differentiation ◽

Tanner Stage ◽

Pubic Hair ◽

Primary Amenorrhea ◽

Histopathological Analysis ◽

Current Case ◽

Stage 4 ◽

Ovarian Dysgerminoma ◽

The University ◽

Swyer Syndrome

Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads. The current case report describes a patient with Swyer syndrome associated with stage 3 gonadal dysgerminoma who has survived for 23 years. At age 18, this patient sought assistance for primary amenorrhea from the Gynecological Services Department of the University of Brasília Hospital. A physical examination revealed that the patient was at Tanner stage 4 with respect to axillary hair, breasts, and pubic hair; she presented with a eutrophic vagina and a small cervix. She was treated with a combination of estrogens and progestogens to induce cycling. Approximately 4 years later, a complex tumor was found and resected; a histopathological analysis revealed that this tumor was a right adnexal dysgerminoma with peritoneal affection. The patient was also subjected to chemotherapy. Her follow-up has continued to the present time, with no signs of tumor recurrence. In conclusion, this report describes an extremely rare case in which Swyer syndrome was associated with ovarian dysgerminoma; relative to similar patients, the described patient has survived for an unusually prolonged time.

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A report of unusual crossed fused renal ectopia and minimal invasive management of calculi

Surgical and Radiologic Anatomy ◽

10.1007/s00276-007-0223-3 ◽

2007 ◽

Vol 29 (5) ◽

pp. 393-395 ◽

Cited By ~ 5

Author(s):

Stéphane Larré ◽

Xavier Carpentier ◽

Philippe Sèbe ◽

Marc Tassart ◽

Olivier Cussenot ◽

...

Keyword(s):

Minimal Invasive ◽

Renal Ectopia ◽

Crossed Fused Renal Ectopia ◽

Invasive Management

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Crossed fused renal ectopia: Sonographic diagnosis

Urologic Radiology ◽

10.1007/bf02924064 ◽

1986 ◽

Vol 8 (1) ◽

pp. 13-16 ◽

Cited By ~ 12

Author(s):

Joan D. Goodman ◽

Karen I. Norton ◽

Linda Carr ◽

Hsu-Chong Yeh

Keyword(s):

Sonographic Diagnosis ◽

Renal Ectopia ◽

Crossed Fused Renal Ectopia

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Hypothyroidism and Precocious Sexual Development: Another Case

PEDIATRICS ◽

10.1542/peds.52.1.149 ◽

1973 ◽

Vol 52 (1) ◽

pp. 149-150

Author(s):

Adolfo Perez Comas

Keyword(s):

Weight Gain ◽

Short Stature ◽

Growth Retardation ◽

Sexual Development ◽

Similar Case ◽

Pubic Hair ◽

Breast Development ◽

Attention Span ◽

Admission Data ◽

Irregular Menses

Recently, an article in Pediatrics by Costin et al.1 described two new cases of hypothyroidism and precocious sexual development. I would like to report another similar case with our available data. M.L.M., a 13-year-old girl was first seen by us at age 12-4/12 for short stature. Her history included growth retardation, diminution of attention span, somnolence, anorexia with weight gain, and constipation beginning between ages 4 to 6. At 9½ years of age irregular menses began, breast development was first noticed at 10 years, and pubic hair at 11½ years. Her initial admission data are in Table I.

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Laparoscopic Davydov Procedure for Creation of Neovagina in MRKH Syndrome

BioScientia Medicina ◽

10.32539/bsm.v5i3.348 ◽

2021 ◽

Vol 5 (3) ◽

pp. 809-813

Author(s):

Ratih Krisna ◽

Rizky Agustria

Keyword(s):

Intraoperative Complications ◽

Abdominal Cavity ◽

Operating Time ◽

Vaginal Wall ◽

Primary Amenorrhea ◽

Mrkh Syndrome ◽

Gynecological Disorders ◽

Interrupted Suture ◽

Sexual Characteristics ◽

Vaginal Canal

Introduction: The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a condition in which there is an absence of the uterus and the upper part (2/3) of the vagina. Women with MRKH syndrome show normal development of secondary sexual characteristics and a normal 46, XX karyotype. MRKH syndrome is a common cause of primary amenorrhea. Ultrasonography examination confirms kidneys, presence of the ovaries, and absence of uterus. Treatment should include a multidisciplinary approach to create a functional vagina. One of the procedures is laparoscopic Davydov vaginoplasty. Aim: To report MRKH syndrome case treated with laparoscopic Davydov vaginoplasty. Method: Ms. A, 21 years old, P0A0, came to FER clinic Moh. Hoesin Hospital Palembang with complaint, never had menstruation, the patient admitted her breast, and her pubic had growth. She wants to get married in the next six months. From the US result, there was non visualized uterus, genital band (+), and both ovaries within normal limit ~ MRKH Syndrome. Karyotype Examination: 46, XX. Patient was diagnosed with primary amenorrhea caused by MRKH syndrome and was planned for neovagina (Davydov Procedure). Result: A woman 21-year-old, P0A0, was diagnosed with primary amenorrhea caused by MRKH syndrome. The Davydov procedure was done to create a neovagina. Intraoperative, after protrusion of the wood mold as a marker shown, an incision is made to the left and right side so that the mold penetrates the abdominal cavity, then the mold is pulled into the vaginal canal slowly. The anterior and posterior peritoneal layers are drawn into the vaginal canal. The anterior and posterior peritoneal layers were withdrawn with an ovum clamp and then interrupted suture. The anterior and posterior peritoneal layers were sutured in a circular method to form a vaginal cuff. The vaginal wall is sutured (interrupted) to hold mold fixed. Conclusion: MRKH syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and the uterus to be underdeveloped or even absent at birth. Patients with diagnosed MRKH syndrome require interdisciplinary care. Davydov procedure is a laparoscopically-assisted technique, which has an advantage over traditional approaches. It has shorter operating time, lower intraoperative complications, shorter hospital stay, and no external scars. Postoperatively, sexual function is similar to women without gynecological disorders.

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Androgen Disorders in Children: Too Much, Too Early, Too Little, or Too Late

Pediatrics in Review ◽

10.1542/pir.5.5.147 ◽

1983 ◽

Vol 5 (5) ◽

pp. 147-156

Author(s):

Robert L. Rosenfield

Keyword(s):

Polycystic Ovary ◽

Gonadal Development ◽

Pubic Hair ◽

Breast Development ◽

Delayed Puberty ◽

Sequence Of Events ◽

Proper Diagnosis ◽

Suppression Test ◽

Testicular Size ◽

Dexamethasone Suppression

Pubarche, used here as synonymous with the onset of sexual hair (Tanner pubic hair stage III), usually follows the onset of true puberty by one to two years. The true status of puberty is best indicated by testicular size in boys and breast development in girls. Departure from this sequence of events, or dissociation of pubic hair from gonadal development are important clues to proper diagnosis when pubarche begins prematurely. Hirsutism or acne in adolescent girls, particularly when associated with menstrual irregularity or obesity, has a high probability of having an androgenic basis. Polycystic ovary syndrome is the most common cause of this situation in teenagers. The pattern of sex hormone levels can be an important clue to the diagnosis of hyperandrogenic disorders, particularly when coupled with a "low-dose," five-day dexamethasone suppression test. Delayed puberty is usually a "constitutional," familial variant of normal development, but can often be distinguished from true hypogonadism by the mid-teenage years using history, examination, steroid 1evels, and a gonadotropin-releasing hormone test. ANDROGENS Testosterone and dehydroepian-drosterone-sulfate (DHAS) are the most important androgens in blood (Fig 1). Testosterone is the major potent form of circulating androgen. DHAS is the most abundant circulating 17-ketosteroid. The normal plasma and urine levels of the androgens are shown in Table 1.

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A Rare Case of Coexistence of Pituitary Stalk Interruption Syndrome and Mayer-Rokitansky-Küster-Hauser Syndrome

10.21203/rs.3.rs-91618/v1 ◽

2020 ◽

Author(s):

Wanlu Ma ◽

Xi Wang ◽

jiangfeng mao ◽

Min Nie ◽

Xueyan Wu

Keyword(s):

Computed Tomography ◽

Differential Diagnosis ◽

Rare Case ◽

Hypogonadotropic Hypogonadism ◽

Pituitary Stalk ◽

Primary Amenorrhea ◽

Case Presentation ◽

Mrkh Syndrome ◽

Breech Delivery ◽

Prepubertal Girls

Abstract Background Pituitary stalk interruption syndrome (PSIS) is a rare congenital pituitary anatomical disorder. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital absence of the uterus, cervix, and part of the vagina in phenotypically normal 46, XX females. Case presentation A young woman was initially diagnosed as MRKH syndrome based on primary amenorrhea, 46, XX karyotype, and absence of uterus or vagina. Further investigation revealed breech delivery, short stature, hypogonadotropic hypogonadism, interrupted pituitary stalk on pituitary MRI, which led to the diagnosis of PSIS. After a 12-month treatment with estradiol, no signs of uterus or vagina were found on pelvic computed tomography.Conclusions We highlight the importance of considering PSIS in the differential diagnosis of suspected MRKH syndrome in prepubertal girls or girls with delayed or absent puberty, when no uterus is visualized on imaging.

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