1. Persistent Mullerian Duct Syndrome Type II A Case Report and Fertility Challenge
H Palawan, S Al Thakafi, S Coskun, N Al Hathal
King Faisal Specialist Hospital and Research Centre
Riyadh, Saudi Arabia
Abstract
Persistent Mullerian Duct Syndrome Type II (PMDS Type-II) is a rare, autosomal recessive disorder of sex development, of male
pseudohermaphroditism, characterized by the persistence of mullerian duct derivatives: uterus, fallopian tubes and upper vagina.
Anti-mullerian hormone (AMH) is a glycoprotein produced by Sertoli cells plays a key role in male sexual differentiation. In male
fetuses, AMH is responsible for regression of the mullerian duct derivatives.
Mutations of the gene or the receptor of AMH are responsible for clinical symptoms of PMDS, with subjects having a 46XY
karyotype and a male phenotype. PMDS is normally encountered unexpectedly during surgery for cryptorchidism or inguinal
hernia. Imaging techniques such as MRI and tomodensidometry can detect such cases before the patient is scheduled for surgery.
Untreated or late treatment results in infertility and germ cell malignancy. Fertility is still uncertain and a challenge for these patients.
Case Presentation
Hormonal Profile
23 years old male patient, presented with history of bilateral undescended testes(UDT).
No other urological complaint.
On Examination
Phenotypically male patient, with male pattern of external genitalia and secondary sexual
characteristics
Scrotum underdeveloped
MRI report from his local hospital showed only bilateral UDT finding and a repeat MRI at
our institution revealed the mullerian structures: upper vagina, uterus, fallopian tubes and ovotestes .
Patient’s brother died due to testicular malignancy, had same clinical presentation.
No history of medication during pregnancy
Laboratory Findings
Karyotypically 46 XY male patient
Semen analysis (IVF-Lab) : Azoospermia
High FSH, LH and normal Testosterone
Table 1. Hormones level pre and post surgery
Hormones
Pre Surgery
Post Surgery
Normal Level
Estrogen (E2) pmol/L
101
<18.4
28-156
Follicle Stimulating Hormone IU/L
19.2
98.9
Luteining Hormone IU/L 16
49.9
Testesterone nmol/L
18.38
0.909
Prolactin µg/L
22.88
17.3
Discussion
Y chromosome (Yp)
undifferentiated testis
Surgical Management
SRY Determinant
Left testis/ovotestis was fixed near the anterior pelvic ring due to short spermatic cord.
Orchiectomy of right testicle.
Hysterectomy along with complete removal of other mullerian structures.
Left testicular biopsy, right testicle, uterus and other structures submitted for
histopathology evaluation.
Tissue samples of right and left ovotestes sent to IVF lab for processing and assessment.
embryonic testis
Testosterone (leydig cells)
AMH (Sertoli’s Cell)
Wolffian duct
stabilization.
Persistence of
Seminal vesicles,
vas deferens
epididymis.
Regression of Mullerian
Structures:
uterus. Fallopian tubes
and vagina
Genital virilization, penis
Labiosacral fusion
Fig.3 Gonadal differentiation
Fig.2 Action of SRY and AMH.
Conclusion
Bilateral undescended testes with male genitalia is a criteria that suggest Disorders of
Sex Development (DSD).
Mismanagement and care of this patient at birth can be multifactorial.
Infertility as a life event is closely associated with PMDS.
Patient had unrealistically hoped for a fertile life after the surgery.
Patient’s autonomy and personhood was respected by the medical team.
Health care professionals faced with a patient with genital ambiguity must be
conscious of the importance of their role in a situation that is still surrounded by
prejudice and stigma, and which has serious medical, psychological and social
implications.
Early diagnosis is crucial for early management(during childhood) in terms of
prevention of malignancies and fertility preservation.
Fig.1 Surgical Management of PMDS OT: Ovotestes; U: Uterus V: Vagina FT: Fallopian tube
Post- Surgical Laboratory Findings
IVF-Lab: No sperm or immature sperm cells identified after biopsy processing.
Left testicular biopsy: Hyalinized seminiferous tubules with intratubular germ cell neoplasia(IGCN). No evidence of spermatogenesis.
Right testis, orchidectomy:Mixed germ cell-sex-cord stromal tumor with focal invasion and IGCN present.
Uterus: Benign endometrium and myometrium. Negative for malignancy.