MRKH

dr. Milani N. Fadila

Identitas Pasien
 Nama pasien : Nn. I
 No. RM : 388377
 Jenis kelamin : Perempuan
 Usia : 17 tahun
 Alamat : Metro
 Agama : Islam
 Masuk Poliklinik : 29 April 2018
BELUM MENSTRUASI
Riwayat Penyakit Sekarang:
 Pasien datang ke poliklinik dengan keluhan belum pernah
haid sampai sekarang (usia 17 tahun). Rambut di kemaluan
dan ketiak belum tumbuh dan payudara baru mulai
tumbuh saat pasien berusia 17 tahun. Riwayat keluar
cairan dari payudara disangkal, riwayat menderita
penyakit kronis dan diabetes mellitus disangkal.
Sebelumnya pasien tidak pernah melakukan pemeriksaan
dan belum pernah terapi. Ayah, ibu dan kakak, semua
sudah berkeluarga dan sudah berketurunan dan tidak ada
kelainan tertentu.
Riwayat Penyakit Dahulu
 Pasien tidak memiliki riwayat trauma ataupun diabetes mellitus.
 Belum pernah menstruasi sebelumnya hingga saat ini.

Riwayat Penyakit Keluarga

 Tidak ada anggota keluarga yang menderita keluhan seperti pasien.
 Riwayat keganasan tidak ada

Riwayat Pribadi dan Sosial

 Pasien seorang pelajar, aktifitas fisik ringan, belum pernah menikah,
tidak ada konsumsi obat tertentu.
 Riwayat kontrasepsi hormonal tidak ada
PEMERIKSAAN FISIK
 Keadaan umum
 Kesadaran : compos mentis
 GCS : E4 V6 M5
 Berat badan : 60 kg
 Tanda-tanda vital
 Tekanan darah : 100/60 mmHg
 Nadi : 82 x/menit
 Respirasi : 20 x/menit
 Suhu : 36,8 ºC
 Bentuk badan : tidak ada deformitas
Pemeriksaan Fisik Umum Hasil
Kepala DBN
Mata Skler ikterik -, konjungtiva anemis -
THT DBN
Mulut DBN
Leher DBN
Dada DBN
Payudara Tanner 2
Jantung Aritmia(-) mur-mur(-) Gallop(-)
Paru-paru Wheezing(-) Ronkhi (-)
Perut DBN
Rambut pubis Tanner 1
Anggota gerak DBN
Status neurologis DBN
Musculoskeletal DBN
Kulit DBN
PEMERIKSAAN PENUNJANG
 Hasil USG :
Uterus dan ovarium tidak berkembang
DIAGNOSIS
 MRKH Syndrom
Penalaksanaan
 Edukasi
 Rujuk
Reference
Definition
 Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome
is the most common form of vaginal agenesis,
characterized by congenital absence of the uterus and
vagina, and it is one of the most common causes of
primary amenorrhea. It is also known as Müllerian
agenesis, CAUV (congenital absence of the uterus and
vagina),MA (Müllerian aplasia) aswell as other names
(Heiman, 2009).
 Embryological evidence shows that MRKH syndrome
occurs due to the failure of Müllerian ducts
development, which in turn leads to a poorly
developed vagina, cervix, uterus or even an absence
of either organ. MRKH syndrome patients have
normal 46, XX karyotype, normal external genitals
(vulva, labiamajora, labia minor and clitoris) and
regular hormonal profiles (Bryan et al., 1949; Griffin et
al., 1976).
Epidemiology
 MRKH syndrome is found at birth in females (1:4000–1:10,000 (Bryan
et al., 1949; Evans et al., 1981)).
Etiology
 Etiology of MRKH syndrome has been postulated to
be environmental, non-genetic (maternal diabetes;
thalidomide-like substances or genetic in origin
(Morcel et al., 2012,2013).
Embryology
Pathophysiology
During embryonic development, Müllerian ducts (paramesonephric)
usually differentiate into upper two-thirds of the vagina, uterus,
cervix, and fallopian tubes (these organs are usually under developed
or missing in most of the MRKH syndrome patients). This
organogenesis process is a complicated one involving cell-to-cell
communication, proliferation and differentiation, as well as interplay
of several genes.
Hence, MRKH syndrome could result from either a genetic defect in the
Müllerian duct formation process or a pathogenic activation of anti-
Müllerian hormone (AMH) signaling pathway (Pizzo et al., 2013; Behr
et all., 2012).
MRKH syndrome is now believed to be an autosomal disorder with
variable phenotypic expressions. Recent studies suggest that MRKH
patients may have genetic defects on several chromosomes, including
1, 4, 7, 8, 10, 11, 16, 17, 22 and X (Pizzo et al., 2013; Morcel et al.,
2012).
However, no single gene or mutation of a gene has been identified to be
responsible for the onset of this condition. More comprehensive and
robust genetic studies are needed to narrow down the exact etiology
in order to develop better diagnosis and treatment options (Morcel et
al.,2012).
Classification
MRKH syndrome can be classified as — type I (isolated) or Rokitansky
sequence (OMIM 277000), and type II (associated) or MURCS
association (Müllerian duct aplasia, renal dysplasia and cervical somite
anomalies) type II being the more frequent one.
 Type I MRKH syndrome is usually characterized by a blockage or a
defect in the caudal part of the vagina and uterus, along with regular
fallopian tubes, while
 type II MRKH syndrome has additional symptoms such as
musculoskeletal defects and several renal defects such as renal
unilateral agenesis, renal ectopia and horseshoed kidney (Morcel et
al., 2008; Willemsen, 1982).
Clinical Manifestation
Primary amenorrhea, dyspareunia (painful intercourse) and possible
cyclic abdominal pain (Strubbe et al., 1993; ACOG, 2013).
Diagnostic
 MRI, ultrasonography, laparoscopy and pyelography are the obvious
diagnostic tools of choice for detection of various anatomical
anomalies in MRKH patients (Troiano and McCarthy, 2004).
Treatment
 Once MRKH syndrome has been diagnosed, patients usually require surgical
corrections. These surgical procedures can be classified as (i) transplantation
based procedures (use of biomaterials such as skin, bowel and peritoneum)
and (ii) dilation based minimally invasive techniques. To date, the primary
treatment options exercised by physicians include vaginoplasty, bowel
vaginoplasty, long term post-operative dilations (i.e. patient has to perform
regular dilation to prevent collapse or shrinkage of the vagina).
Dilation based procedures are based on the principle of mechanical training.
Small strainingwas performed by the physician using dilators so that slowly
the vaginal space would widen and ultimately create a neovagina. Dilation
procedures are conservative, cost effective and less painful than the surgical
procedures.
If the woman wants baby theres option like surrogacy (Edmonds, 2003; Goel,
2009).
Discussion
Diagnosis Banding
 Penatalaksanaan

 Edukasi
 Rujuk

 Prognosis
Quo ad vitam : bonam
Quo ad sanam : bonam
Conclusion
 Congenital absence of vagina and uterus or MRKH
syndrome has been noted throughout history, but the
etiology or pathophysiology of this condition is still not
well understood. The presence of associated anomalies in
MRKH patients makes the whole diagnosis and treatment
process even more complicated. Moreover, the MRKH
patients have shown to have a higher degree of variation
in their genetic disposition. An improved, more
anatomically focused, and clinically applicable
classification system would ensure proper prognosis,
improved treatment options, and better quality of life.
Referrence List
 ACOG, 2013. ACOG Committee Opinion No. 562: Mullerian agenesis: diagnosis,
management, and treatment. Obstet. Gynecol. 121 (5), 1134–1137.
 Behr S, Courtier J, Qayyum A. Imaging of Müllerian Duct Anomalies. RadioGraphics.
2012;32(6):E233-E250.
 Bryan, A.L., Nigro, J.A., Counseller, V.S., 1949. One hundred cases of congenital absence
of the vagina. Surg. Gynecol. Obstet. 88 (1), 79–86.
 Edmonds, D.K., 2003. Congenital malformations of the genital tract and their
management. Best Pract. Res. Clin. Obstet. Gynaecol. 17 (1), 19–40.
 Evans, T.N., Poland, M.L., Boving, R.L., 1981. Vaginalmalformations. Am. J. Obstet.
Gynecol. 141 (8), 910–920.
 Goel, N.R.S., 2009. State-of-the-art Vaginal Surgery. Jaypee Brothers; McGraw-Hill
Medical, New Delhi, India; New York.
 Griffin, J.E., et al., 1976. Congenital absence of the vagina. The Mayer–Rokitansky–
Kuster–Hauser syndrome. Ann. Intern. Med. 85 (2), 224–236.
 Heiman, D.L., 2009. Amenorrhea. Prim. Care 36 (1), 1–17.
 Morcel, K., et al., 2012. Clinical utility gene card for: Mayer–Rokitansky–Kuster–Hauser
syndrome. Eur. J. Hum. Genet. 20 (2).
 Morcel, K., et al., 2013. Involvement of ITIH5, a candidate gene for congenital
uterovaginal aplasia (Mayer–Rokitansky–Küster–Hauser syndrome), in female genital
tract development. Gene Expr. 15 (5–6), 5–6.
 Pizzo, A., et al., 2013. Mayer–Rokitansky–Kuster–Hauser syndrome: embryology,
genetics and clinical and surgical treatment. ISRN Obstet. Gynecol. 2013, 10.
 Willemsen, W.N.P., 1982. Renal–skeletal–ear and facial-anomalies in combination with
the Mayer–Rokitansky–Küster (MRK) syndrome. Eur. J. Obstet. Gynecol. Reprod. Biol. 14
(2), 121–130.
 Strubbe, E.H., et al., 1993. Mayer–Rokitansky–Kuster–Hauser syndrome: distinction
between two forms based on excretory urographic, sonographic, and laparoscopic
findings. AJ. Am. J. Roentgenol. 160 (2), 331–334.
 Troiano, R.N.,McCarthy, S.M., 2004. Mullerian duct anomalies: imaging and clinical
issues. Radiology 233 (1), 19–34.