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Persistent Müllerian Duct Syndrome 780.e3

Persistent Müllerian Duct Syndrome Client Education
Sheet
VetBooks.ir Prevention Diseases and Disorders

DIAGNOSIS
BASIC INFORMATION
PMDS is a hereditary autosomal recessive trait.
Definition Diagnostic Overview Affected animals should be castrated. Parents
Persistent müllerian duct syndrome (PMDS) A genetic test using DNA extracted from whole and male and female siblings of affected animals
is an uncommon condition characterized by blood is available. The test detects the presence can be latent carriers and should be eliminated
the presence of paired uterine tubes, uterine of the C241T mutation in the MISRII gene. from breeding stock. Alternatively, suspected
horns, uterine body, cervix, and cranial vagina Abdominal ultrasonography and/or exploratory breeding animals can be screened with the
in a male dog or cat. surgery can be used for confirming that a MISRII genetic test, which can detect male
suspected patient is genetically male with and female carriers.
Epidemiology bilateral testes and retention of all müllerian
SPECIES, AGE, SEX duct–derived organs. Technician Tips
Male dogs and cats; present at birth Cryptorchid dogs and cats with their ductus
Differential Diagnosis deferens replaced by a uterine-like structure
GENETICS, BREED PREDISPOSITION Male pseudohermaphrodite are likely affected by PMDS. Genetic testing
Miniature schnauzers, basset hounds, and should be recommended to definitively confirm.
Persian cats Initial Database
PMDS is an autosomal recessive condition. CBC; serum biochemistry panel indicated if Client Education
It is caused by a mutation in the müllerian- clinical signs are present Same as Prevention (see above)
inhibiting substance type II receptor gene
(MISRII). Advanced or Confirmatory Testing SUGGESTED READING
DNA screening test for specific MISRII Romagnoli S, et al: Disorders of sexual differentiation
ASSOCIATED DISORDERS mutation, abdominal ultrasound, abdominal in puppies and kittens: a diagnostic and clinical
Urinary tract infections, prostatitis, fever of exploratory surgery approach. Vet Clin North Am Sm Anim Pract
unknown origin, pyometra, cryptorchidism 36:573, 2006.
Clinical Presentation TREATMENT ADDITIONAL SUGGESTED
HISTORY, CHIEF COMPLAINT Treatment Overview READINGS
Affected animals may show no clinical signs; Treatment of PMDS depends on the clinical Meyers-Wallen VN: Gonadal and sex differentiation
persistence of the female tubular reproductive signs produced by the retention of müllerian abnormalities of dogs and cats. Sex Dev 6:46, 2011.
tract may be an incidental finding during duct–derived organs. If the retained uterus Pujar S, et al: A molecular diagnostic test for persistent
ultrasound exam or exploratory surgery in a is infected, it must be treated as a pyometra. müllerian duct syndrome in miniature schnauzer
male animal. PMDS may also be associated Cryptorchid testes should be removed to dogs. Sex Dev 3:326, 2010.
with urinary tract infection, prostatitis, or fever prevent development of testicular neoplasia. Smit MM, et al: Prevalence of the AMHR2 mutation
of unknown origin due to pyometra or infected in miniature Schnauzers and genetic investigation
of a Belgian malinois with persistent Mullerian
uterus masculinus. Acute General Treatment duct syndrome. Reprod Dom Anim 53:371, 2018.
Affected animals should not be used for breed-
PHYSICAL EXAM FINDINGS ing. Affected animals showing clinical signs
Normal external male genitalia; 50% are should undergo simultaneous castration and RELATED CLIENT EDUCATION
cryptorchid. hysterectomy. SHEETS
Etiology and Pathophysiology PROGNOSIS & OUTCOME Consent to Perform Abdominal Ultrasound
Normally, müllerian-inhibitory substance (MIS) Consent to Perform Castration, Canine
secreted by the embryonic testes prevents Prognosis is good for a normal life span after Consent to Perform Castration, Feline
development of the müllerian ducts into castration and hysterectomy. Consent to Perform Exploratory Laparotomy
uterine tubes, uterus, cervix, and cranial vagina. Consent to Perform General Anesthesia
PMDS patients are genetically (XY) male but PEARLS & CONSIDERATIONS AUTHOR: James A. Flanders, DVM, DACVS
lack MIS receptors due to a point mutation EDITOR: Michelle A. Kutzler, DVM, PhD, DACT
(C241T) in the müllerian-inhibiting substance Comments
type II receptor gene (MISRII), and embryonic Dogs and cats with this heritable disorder are
regression of the müllerian duct system does not often healthy, but castration and hysterectomy
occur. can prevent potential complications.

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