Mayor rokinstanksy KH Syndrome case presentation type 2

slide ppt

1. MRKH TYPE II WITH SKELETAL ABNORMALITY, RIGHT RENAL AGENESIS, ADENOMYOSIS, AND OVARIAN ENDOMETRIOSIS CYST IN CIPTO MANGUNKUSUMO HOSPITAL : A RARE CASE REPORT Obstetrics and Gynecology Subspecialty Medical Education Program Specialization in Reproductive Endocrinology and Fertility University of Indonesia

2. Ms.21 yo Chief complaint: Never getting a period There is cyclic pain, There is no smell disturbance, weight gain or loss, fluid coming out of the breasts. Breast and pubic hair growth (+) Didn't feel any problems with the genital organs. Not married yet, no plans to get married yet. There are no serious illnesses Education: Senior high school Case Ilustration

3. Case Ilustration Physical examination Vital Signs: Normal; BMI: 16.878 Kg/m2 Generalist status: Short stature (+) Web Neck (-) Skeliosis (+) Skeletal malformation (+) on distal right hand

4. Case Ilustration Physical examination Vital Signs: Normal; BMI: 16.878 Kg/m2 Generalist status: Normal Breast : M3 I.Papila elevated II.Breast bud III. Breast elevated and extend beyond areola IV.Secondary mound of areola V.Mature stage,areola share general contour

5. Case Ilustration Physical examination Pubic Hair: P3 I. No hair II. Small amount of hair, labia pigmentation III. Darker,curling ,increase amount IV. Coarse,curly and adult type V. Extend to thighs

6. Case Ilustration Physical examination Labia majora are within normal limits No clitoromegaly was found Meastus urethra (+) The vaginal introitus is not perfect There were no masses on both right and left inguinals Rectal touche: No uterus and cervix palpable and masses were found in left adnexa

7. Case Ilustration Ultrasound Findings Bladder fills. The structure of the posterior urinary bladder is visible, thought to originate from the uterus, with the appearance of a hyper-hypoechoic mass, ill-defined, measuring 35 x 27 x 36 mm, vol. 18.5 cm3, impression of diffuse adenomyosis dd/ hematocolpos The uterine cavity and endometrial lining are not visualized The endocervix and portio are not visualized. Sliding sign is positive No US guided tenderness found

8. Case Ilustration Ultrasound Findings The right ovary size 24 x 15 x 17 mm, vol. 3.4 cm3, seen antral follicle with AFC 3, No Follicle dominant, no mass visible. The left ovary transformed into a cystic, unilocular mass, containing fine internal echogenic material, measuring 65 x 63 x 83 mm, vol. 180.7 cm3, no visible solids, papillary growth, increased vascularity, or free fluid, consistent with a left ovarian endometriosis cyst. No visible free fluid-superficial endometriosis is difficult to exclude

9. Case Ilustration Ultrasound Findings The right kidney is not visualized, suggesting right renal agenesis. The left kidney is normal in shape, there is no visible widening of the pelvicalyx system. Impression: Diffuse adenomyosis - effects of mullerian dysgenesis Cervical agenesis Left ovarian endometriosis cyst Right renal agenesis

10. AMH : 1.48 ng/ml LH : 3.8 mIU/L FSH : 16.68 mIU/L Estradiol : 40.9 pg/ml Case Ilustration Karyotyping Hormonal laboratory Finding

11. Case Ilustration Diagnose : MRKH type 2 with adenomiosis and endometriosis cyst Management: by DSD team of Cipto Mangunkusumo Hospital ( multidiciplinary) Counselling : Gender identity, diagnose, future fertility, medical problem Laparoscopic diagnostic, resection, cystectomy Reconstructive surgery: creation of a neovagina if there is found hematocolpos

12. Mental Health Medic Gender identity: Female Gender expression: Feminine Sexual orientation: Male Ambigious genitalia Clitoromegaly Cryptochidism “Patient Center” Patient Wants to Get Married CASE DISCUSSION BY THE DSD TEAM Patients with the gender identity Female and about to get married —> Role as Wife Reconstructive surgery: Gonadectomy, clitoroplasty, and creation of a neovagina Hormone replacement therapy with estrogen (low dose initially) Ongoing counseling, involving family and prospective husband 46,XX DSD , Genital Organ Abnormalities

13. ACOG RECOMENDATION Patients with müllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development. Rudimentary müllerian structures are found in 90% of patients with müllerian agenesis by magnetic resonance imaging. On ultrasonography, these rudimentary müllerian structures are difficult to interpret and may be particularly misleading before puberty. Evaluation for associated congenital anomalies is essential because up to 53% of patients with müllerian agenesis have concomitant congenital malformations, especially of the urinary tract and skeleton. All patients with müllerian agenesis should be offered counseling and encouraged to connect with peer support groups. Future options for having children should be addressed with patients. Primary vaginal elongation by dilation is the appropriate first-line approach in most patients because it is safer, patient-controlled, and more cost effective than surgery. Because primary vaginal dilation is successful for more than 90–96% of patients, surgery should be reserved for the rare patient who is unsuccessful with primary dilator therapy or who prefers surgery after a thorough informed consent discussion with her gynecologic care provider and her respective parent(s) or guardian(s). Regardless of the surgical technique chosen, referrals to centers with expertise should be offered. The surgeon must be experienced with the procedure because the initial procedure is more likely to succeed than follow-up procedures. Although vulvar and vaginal intraepithelial neoplasia are possible, r outine cytology testing is not regularly recommended because of the lack of a cervix. Sexually active women with müllerian agenesis should be aware that they are at risk of sexually transmitted infections and, thus, condoms should be used for intercourse . Patients should be appropriately screened for sexually transmitted infections according to the guidelines for women without müllerian agenesis. Patients should be given a written medical summary of their condition, including a summary of concomitant malformations. This information may be useful if the patient requires urgent medical care or emergency surgery by a health care provider unfamiliar with müllerian agenesis.

14. Discuss Ms.21 yo Main complaint: Never menstruated Secondary sex characteristics (+) Skeliosis (+) Skeletal malformation (+) on distal right hand External genitalia: Ambigious genitalia were not found No uterine and vagina structures were found, but seen endometrioma and adenomiosis structure from ultrasound There are no gonadal structures (testes on both labia) Karyotyping 46 XX MRKH type 2 with Adenomyosis and endometriosis cyst

15. Discuss Uterus : no Payudara : M3 Ambigious genitalia and vagina (-) 46,XX DSD , 1st Cathegory ( Genital Organ Abnormality): MRKH TYPE 2 Pubic hair : P3 Diagnose : MRKH type 2 Skeletal malformation (+)

16. HOSPITAL WITH DSD TEAM “ Evaluation and long term management must be carried out at a centre with an experienced multidisciplinary team ”

17. Discuss 46,XX DSD , Genital Organ Abnormalities,with Adenomiosis and Endometrioma Cyst

18. Mental Health Medic Gender identity: Female Gender expression: Feminine Sexual orientation: Male Ambigious genitalia Clitoromegaly Cryptochidism “Patient Center” Patient Wants to Get Married CASE DISCUSSION BY THE DSD TEAM Patients with the gender identity Female and about to get married —> Role as Wife Reconstructive surgery: Gonadectomy, clitoroplasty, and creation of a neovagina Hormone replacement therapy with estrogen (low dose initially) Ongoing counseling, involving family and prospective husband 46,XX DSD , Genital Organ Abnormalities

19. Resume Mayer–Rokitansky–Küster–Hauser syndrome, or vaginal agenesis, (incidence of 1 per 4,500–5,000 females). Müllerian is caused by embryologic underdevelopment of the müllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both . The vaginal canal is markedly shortened and may appear as a dimple below the urethra. A single midline uterine remnant may be present or uterine horns (with or without an endometrial cavity) may exist. The ovaries, given their separate embryologic source, are typically normal in structure and function, though they may be found in atypical locations. The coexistence of endometriosis and MRKH syndrome adds more controversies to the endometriosis pathogenesis theories. Some authors indicated that endometriosis may present in patients with MRKH syndrome even when the active Müllerian remnants are absent. Patients with mullerian agenesis and pelvic pain should be carefully evaluated, and the presence of pelvic endometriosis should not be excluded. 38% of patients with MRKH syndrome also suffered from endometriosis. Even though the pain’s etiology is controversial, surgical excision of the Müllerian remnants resolved the pain successfully in 50% of patients. Although the pain persisted in only 21% of patient. Moreover, endometriosis raises the risk of ovarian cancer by 50% .Appropriate management of endometriosis is crucial for optimizing the postoperative outcomes as well as to reduce the risk of ovarian cancer and endometriosis recurrence.

20. Resume Although Mayer-Rokitansky-Kuster-Hauser syndrome usually presents with uterine agenesis, up to 10% of the women may have an obstructed uterus or a rudimentary horn, which may also lead to other pathologies. A uterine remnant without functional endometrium may develop adenomyosis and lead to worsening pelvic pain and, consequentially, surgical treatment must be considered. Laparoscopic resection of uterine remnants should be the first therapeutic choice, which results in subsequent short recovery periods, low postoperative pain and good cosmetic results. Preoperative evaluation with MRI and MRI or CT urography is essential to assess the unique anatomy of these patients and to evaluate the presence of urinary tract anomalies. Our case of a patient with complete uterine and cervical agenesis supports the theory of coelomic metaplasia, which describes the transformation of totitpotent cells in the peritoneal cavity into endometrial cells. Another proposed theory that might explain the presence of endometriosis in this patient with MRKH syndrome is the embryonic Mullerian rest theory, which assumes that there are cell rests of Mullerian origin in the pelvis that are stimulated by ovarian steroids at puberty.