scholarly journals Primary Amenorrhea with Mayer-Rokitansky-Kuster-Hauser Syndrome

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.

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

2015 ◽  
Vol 7 (3) ◽  
pp. 220-222
Author(s):  
Lubna Inam
Keyword(s):  
Pubic Hair ◽  
Serous Cystadenoma ◽  
Cystic Mass ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Mrkh Syndrome ◽  
Renal Ectopia ◽  
Unicornuate Uterus ◽  
Gynecological Examination ◽  
Crossed Fused Renal Ectopia

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.

scholarly journals Laparoscopic Davydov Procedure for Creation of Neovagina in MRKH Syndrome

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.

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

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
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.

scholarly journals Mayer-Rokitansky-Kuster-Hauser Syndrome: Embryology, Genetics and Clinical and Surgical Treatment

2013 ◽  
Vol 2013 ◽  
pp. 1-10 ◽  
Author(s):  
Alfonsa Pizzo ◽  
Antonio Simone Laganà ◽  
Emanuele Sturlese ◽  
Giovanni Retto ◽  
Annalisa Retto ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Renal Agenesis ◽  
Pathological Condition ◽  
The Other ◽  
Primary Amenorrhea ◽  
Mrkh Syndrome ◽  
Inhibiting Factor ◽  
Male Phenotype ◽  
Congenital Aplasia ◽  
Mullerian Ducts

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a pathological condition characterized by primary amenorrhea and infertility and by congenital aplasia of the uterus and of the upper vagina. The development of secondary sexual characters is normal as well as that the karyotype (46,XX). Etiologically, this syndrome may be caused by the lack of development of the Müllerian ducts between the fifth and the sixth weeks of gestation. To explain this condition, it has been suggested that in patients with MRKH syndrome, there is a very strong hyperincretion of Müllerian-inhibiting factor (MIF), which would provoke the lack of development of the Müllerian ducts from primitive structures (as what normally occurs in male phenotype). These alterations are commonly associated with renal agenesis or ectopia. Specific mutations of several genes such as WT1, PAX2, HOXA7-HOXA13, PBX1, and WNT4 involved in the earliest stages of embryonic development could play a key role in the etiopathogenesis of this syndrome. Besides, it seems that the other two genes, TCF2 (HNF1B) and LHX1, are involved in the determinism of this pathology. Currently, the most widely nonsurgical used techniques include the “Frank’s dilators method,” while the surgical ones most commonly used are those developed by McIndoe, Williams, Vecchietti, Davydov, and Baldwin.

scholarly journals Laparoscopic Davydov Procedure for Creation of Neovagina in MRKH Syndrome

2021 ◽  
Vol 5 (9) ◽  
pp. 837-841
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.

Letters to the Editor

PEDIATRICS ◽  
1973 ◽  
Vol 52 (1) ◽  
pp. 150-150
Author(s):  
Gertrude Costin ◽  
Maurice D. Kogut
Keyword(s):  
Thyroid Hormone ◽  
Clinical Data ◽  
Pubic Hair ◽  
Breast Development ◽  
Letters To The Editor ◽  
Female Patients ◽  
Secondary Sexual Characteristics ◽  
Adequate Therapy ◽  
Sexual Characteristics ◽  
Axillary Hair

Drs. Costin and Kogut comment as follows: We were pleased to read Dr. Comas' letter in which he describes a 12-4/12-year-old girl whose clinical data suggest that she may be an example of the syndrome that we reported. The evidence for this was the occurrence of menstruation, pubic hair, and breast development when the patient was hypothyroid and disappearance of menstruation following treatment with thyroid hormone. It is not clear why Dr. Comas' patient had an increase in pubic hair and appearance of axillary hair following treatment at a time when her menstrual periods ceased; in all the reported female patients regression of the secondary sexual characteristics was noted following adequate therapy.

scholarly journals Primary amenorrhea with Swyer syndrome: a rare case report

2020 ◽  
Vol 10 (2) ◽  
pp. 130-132
Author(s):  
Aleya Ferdush Monni ◽  
Md Shafikul Islam ◽  
Md Faruque Pathan ◽  
Feroz Amin ◽  
Faria Afsana
Keyword(s):  
Case Report ◽  
External Genitalia ◽  
Chromosome Analysis ◽  
Interesting Case ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Rare Case Report ◽  
Axillary Hair ◽  
Laparoscopic Removal ◽  
Swyer Syndrome

Swyer syndrome with complete gonadal dysgenesis is associated with an absence of testicular differentiation in a phenotypic female with a 46, XY karyotype. The diagnosis is usually made at adolescence when primary amenorrhea is investigated. Here is an interesting case report of 18-year-old unmarried girl, who presented with primary amenorrhea and non-development of breasts. Her body built was musculin with broad shoulders, prominent Adam’s apple and deep voice. Examination of her secondary sexual charaistisctcs revealed no breast development, absent axillary hair and sparse pubic hairs with female type of external genitalia. Laboratoryanalyses revealed serum follicle-stimulating hormone and luteinizing hormone levels compatible with hypergonodotropichypogonadism. Pelvicultrasonography showed an infantile uterus and streak gonads. Chromosome analysis revealed 46, XYkaryotype. Laparoscopic removal of streak gonads was done as there is a risk of gonadoblastoma in such cases. The patient was started on hormonal replacement therapy. Swyersyndrome results mainly due to mutation in certain genes such as SRY gene, which leads to failure of development of testis. Birdem Med J 2020; 10(2): 130-132

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

2015 ◽  
Vol 8 (1) ◽  
pp. 179-184 ◽  
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.

Hypothyroidism and Precocious Sexual Development: Another Case

PEDIATRICS ◽  
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.

INDEX OF SUSPICION

1992 ◽  
Vol 13 (11) ◽  
pp. 435-437
Author(s):  
Summer Smith ◽  
John L. Green ◽  
Susan K Lynch ◽  
Mark J. Polak
Keyword(s):  
Early Diagnosis ◽  
Physical Exertion ◽  
Tanner Stage ◽  
Pubic Hair ◽  
Acting Out ◽  
History Of ◽  
Prolonged Fatigue ◽  
Axillary Hair ◽  
Case Presentations ◽  
Diagnosed Diabetes

This section of Pediatrics in Review reminds clinicians of those conditions that can present in a misleading fashion and require suspicion for early diagnosis. Emphasis has been placed on conditions in which early diagnosis is important and that the general pediatrician might be expected to encounter, at least once in a while. The reader is encouraged to write possible diagnoses for each case before turning to the discussion, which is on the following page. We invite readers to contribute case presentations and discussions. Case 1 Presentation A 17-year-old boy is admitted to the hospital for evaluation and management of recently diagnosed diabetes mellitus. His mother expresses concern about his acting-out behavior and about frequent difficulties in drinking from a glass due to tremors. On examination he is found to be 68.5 inches tall, and he has a mild scoliosis. Evaluation of sexual development reveals axillary hair at Tanner stage III, pubic hair at stage V, penile length of 8 cm, left testicular volume of 3.0 x 1.8 cm, and an undescended right testicle. No breast tissue is palpable. Case 2 Presentation A 16-year-old girl is seen at your office with a history of prolonged fatigue and weakness. She has missed school frequently over the past 4 to 5 months, having had many vague complaints of "no energy," headaches, sore throats, aching knees, and the feeling that she will almost "pass out" if she does gymnastics or physical exertion of any kind.

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