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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (March 2012) |
| Persistent Müllerian duct syndrome |
| Classification and external resources |
| ICD-10 |
Q55.8 |
| OMIM |
261550 |
| DiseasesDB |
33868 |
| MeSH |
C536665 |
Persistent Müllerian duct syndrome (PMDS) refers to the presence of a uterus and sometimes other Müllerian duct derivatives in a genetically male animal. In humans, PMDS typically is due to an autosomal recessive[1] congenital disorder and is considered by some to be a form of pseudohermaphroditism due to the presence of uterine tissue.[2]
Typical features include undescended testes (cryptorchidism) and the presence of a small, underdeveloped uterus in a genetically male infant or adult. This condition is usually caused by deficiency of fetal anti-Müllerian hormone (AMH) effect due to mutations of the gene for AMH or the anti-Müllerian hormone receptor.
Contents
- 1 Background
- 2 Presentation
- 3 Treatment
- 4 Molecular genetics and inheritance
- 5 References
- 6 See also
Background
AMH (Anti Müllerian Hormone) is produced by the primitive Sertoli cell as one of the earliest Sertoli cell products and induces regression of the Müllerian ducts. Fetal Müllerian ducts are only sensitive to AMH action around the 8th week of gestation, and Müllerian regression is completed by the end of the 9th week. The AMH induced regression of the Müllerian duct occurs in cranio-caudal direction via apoptosis. The AMH receptors are located on the Müllerian duct mesenchyme and transfer the apoptotic signal to the Müllerian epithelial cell presumably via paracrine actors. The Wolffian ducts differentiate into epididymides, vasa deferentia and seminal vesicles under the influence of testosterone, produced by the fetal Leydig cell[3]
Presentation
Because both the Wolffian ducts and Müllerian ducts begin to develop, the tissues are often intertwined, resulting in obstruction or nonpatency of the vas deferens or other parts of the male excretory ducts. This can result in infertility, the most serious potential problem caused by this condition.
Cryptorchidism in AMH deficiency suggests that AMH may play a role in transabdominal testicular descent, perhaps by facilitating contraction of the gubernaculum.
Other Müllerian derivatives which may be present in at least a rudimentary form are the cervix, upper part of the vagina, and fallopian tubes.[4]
The condition can come to attention because of a bulge in the inguinal canal of a genetically male infant due to herniation of the uterus. The presence of a uterus may be noticed if an ultrasound or MRI of the pelvis is performed to locate the testes or for other reasons. Occasionally the uterus is discovered during abdominal surgery for some other purpose in later childhood or adult life.
Although persistent Müllerian duct syndrome is classified as an intersex condition, it does not involve ambiguity or malformation of the external genitalia, which appear typically male (apart from cryptorchidism if present).
Apart from humans, this syndrome has been reported in dogs.[5]
Treatment
Surgery (orchiopexy) to retrieve the testes and position them in the scrotum is the primary treatment. Occasionally they are unsalvageable if located high in the retroperitoneum. During this surgery, the uterus is usually removed and attempts made to dissect away Müllerian tissue from the vas deferens and epididymis for the purpose of improving the chance of fertility. If the person has male gender identity and the testes cannot be retrieved, testosterone replacement will be necessary at puberty.[citation needed] Lately, laparascopic hysterectomy is offered to patients as a solution to both improve the chances of fertility and to prevent the occurrences of neoplastic tissue formation.[2]
Molecular genetics and inheritance
PMDS type I results from mutations of the gene (AMH) for AMH on chromosome 19p3.3.[6]
PMDS type II results from mutations of the gene (AMH-RII) for the AMH receptor on 12q13.[7]
Persistent Müllerian duct syndrome has an autosomal recessive pattern of inheritance.
Both types of disorders are inherited as autosomal recessive conditions with expression usually limited to genetic males.
References
- ^ Imbeaud, S; Belville, C; Messika-Zeitoun, L; Rey, R; Di, Clemente, N; Josso, N; Picard, Jy (September 1996). "A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome" (Free full text). Human Molecular Genetics 5 (9): 1269–77. doi:10.1093/hmg/5.9.1269. PMID 8872466.
- ^ a b Colacurci, N.; A.Cardone, P.De Franciscis, E.Landolfi, T.Venditto, A.A.Sinisi (1997-12-02). "Laparoscopic hysterectomy in a case of male pseudohermaphroditism with persistent Müllerian duct derivatives". European Society of Human Reproduction and Embryology (Oxford University Press) 12 (2): 272–274. doi:10.1093/humrep/12.2.272. ISSN 1460-2350. Retrieved 2009-05-17.
- ^ Rey, Rodolfo (2005-02-01). "Anti-Müllerian hormone in disorders of sex determination and differentiation". Arq. Bras. Endocrinol. Metabol. 49 (1): 26–36. PMID 16544032.
- ^ Grzegorz Kudela, Mirosław Mikosiński, Wojciech Utrata, Elżbieta Kuleta-Bosak, Barbara Kalina-Faska, Tomasz Koszutski (2008). "Persistent Müllerian Duct Syndrome – Familiar Occurrence". J. Urologia Polska 61 (3). ISSN 0500-7208.
- ^ Vegter AR, Kooistra HS, van Sluijs FJ, van Bruggen LW, Ijzer J, Zijlstra C, Okkens AC (October 2008). "Persistent Müllerian Duct Syndrome in a Miniature Schnauzer Dog with Signs of Feminization and a Sertoli Cell Tumour". Reprod. Domest. Anim. 45 (3): 447–52. doi:10.1111/j.1439-0531.2008.01223.x. PMID 18954385.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 600957
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 600956
See also
- Intersex
- Sexual differentiation
- Cryptorchidism
- Anti-müllerian hormone
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Male congenital anomalies of the genitalia, including Intersex and DSD: (Q53–Q56 752.5–752.7)
|
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| Internal |
| Testicle |
- Cryptorchidism
- Polyorchidism
- Monorchism
- Anorchia
- Sertoli cell-only syndrome
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- True hermaphroditism
- Mixed gonadal dysgenesis
- Swyer syndrome
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| Vas deferens |
- Congenital absence of the vas deferens
|
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| Other |
- Persistent Müllerian duct syndrome
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| External |
| Penis |
- Hypospadias
- Chordee
- Micropenis
- Penile agenesis
- Diphallia
|
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| Other |
|
|
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Index of the male reproductive system
|
|
| Description |
- Anatomy
- Physiology
- Development
|
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| Disease |
- Congenital
- Neoplasms and cancer
- Other
- Symptoms and signs
|
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| Treatment |
- Procedures
- Drugs
- androgens
- benign prostatic hypertrophy
- erectile dysfunction and premature ejaculation
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Genetic disorder, membrane: cell surface receptor deficiencies
|
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G protein-coupled receptor
(including hormone) |
| Class A |
- TSHR (Congenital hypothyroidism 1)
- LHCGR (Male-limited precocious puberty)
- FSHR (XX gonadal dysgenesis)
- EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
- AVPR2 (Nephrogenic diabetes insipidus 1)
- PTGER2 (Aspirin-induced asthma)
|
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| Class B |
- PTH1R (Jansen's metaphyseal chondrodysplasia)
|
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| Class C |
- CASR (Familial hypocalciuric hypercalcemia)
|
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| Class F |
- FZD4 (Familial exudative vitreoretinopathy 1)
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Enzyme-linked receptor
(including
growth factor) |
| RTK |
- ROR2 (Robinow syndrome)
- FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome)
- FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome)
- FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome)
- INSR (Donohue syndrome
- Rabson–Mendenhall syndrome)
- NTRK1 (Congenital insensitivity to pain with anhidrosis)
- KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
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| STPK |
- AMHR2 (Persistent Müllerian duct syndrome II)
- TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia)
- TGFBR1/TGFBR2 (Loeys-Dietz syndrome)
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| GC |
- GUCY2D (Leber's congenital amaurosis 1)
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| JAK-STAT |
- Type I cytokine receptor: GH (Laron syndrome)
- CSF2RA (Surfactant metabolism dysfunction 4)
- MPL (Congenital amegakaryocytic thrombocytopenia)
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| TNF receptor |
- TNFRSF1A (TNF receptor associated periodic syndrome)
- TNFRSF13B (Selective immunoglobulin A deficiency 2)
- TNFRSF5 (Hyper-IgM syndrome type 3)
- TNFRSF13C (CVID4)
- TNFRSF13B (CVID2)
- TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)
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| Lipid receptor |
- LRP: LRP2 (Donnai–Barrow syndrome)
- LRP4 (Cenani–Lenz syndactylism)
- LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
- LDLR (LDLR Familial hypercholesterolemia)
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| Other/ungrouped |
- Immunoglobulin superfamily: AGM3, 6
- Integrin: LAD1
- Glanzmann's thrombasthenia
- Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR Hypohidrotic ectodermal dysplasia)
- PTCH1 (Nevoid basal cell carcinoma syndrome)
- BMPR1A (BMPR1A Juvenile polyposis syndrome)
- IL2RG (X-linked severe combined immunodeficiency)
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- See also
- cell surface receptors
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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