Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Küster-Hauser syndrome.
OBJECTIVE
To describe the clinical and laboratory features of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) and to provide evidence for its etiology.


METHODS
Case report.


METHODS
General hospital.


METHODS
Six consecutive cases of MRKH over a period of 12 months.


METHODS
Endocrine evaluation was performed. Genital system abnormalities were studied by pelvic ultrasound, magnetic resonance imaging, and laparoscopy; associated congenital anomalies by bone studies and intravenous pyelogram; and presence of Y chromosome material by karyotype and polymerase chain reaction (PCR and nested PCR).


METHODS
Clinical and laboratory features of MRKH and presence of Y chromosome genes.


RESULTS
Endocrine evaluation was normal in five patients. One woman revealed hypergonadotropic hypogonadism due to bilateral absence of gonads. Four patients had symmetric (type A) and two had asymmetric uterine remnants and fallopian tubes (type B). Renal and skeletal malformations were present in both types of MRKH. Karyotype was 46,XX in all patients. Although PCR was negative, nested PCR revealed the testis specific protein 1-Y-linked (TSPY) gene in two women.


CONCLUSIONS
Skeletal and renal malformations may be present in both MRKH subtypes. Gonadal absence may coexist with the syndrome. This is the first report that detects Y-chromosome genes in patients with MRKH.
Plevraki
Eirini
E
Department of Endocrinology, Hippocration General Hospital, Thessaloniki, Greece.
Kita
Marina
M
Goulis
Dimitrios G
DG
Hatzisevastou-Loukidou
Hariklia
H
Lambropoulos
Alexandros F
AF
Avramides
Avraam
A
D000015:Abnormalities, Multiple / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities*; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities*; D009095:Mullerian Ducts / Q000002:abnormalities*; D009687:Nuclear Proteins; D010053:Ovary / Q000002:abnormalities*; D016133:Polymerase Chain Reaction; D051876:Sex-Determining Region Y Protein; D013577:Syndrome; D014157:Transcription Factors
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; C497749:TSPY1 protein, human; D014157:Transcription Factors