IllnessMayer-Rokitansky-Küster-Hauser syndrome, differential diagnosis

NGS +

[Sanger]

In Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, the vagina and uterus are underdeveloped or absent, although the external genitalia are normally formed. Affected women have primary amenorrhea with normally functioning ovaries. When only the reproductive organs are affected, the condition is classified as MRKH syndrome type 1. Some women with MRKH 2 also have abnormalities of the kidneys, spine or heart defects etc. Inheritance generally appears multifactorial. If no pathogenic variants are identified in candidate genes, the clinical diagnosis is by no means ruled out.

Reference: https://link.springer.com/article/10.1007/s11825-018-0173-7

• Alias: Congenital absence of uterus + vagina
• Alias: Genital renal ear syndrome, GRES
• Alias: Mullerian aplasia and hyperandrogenism
• Alias: Mullerian aplasia/dysgenesis
• Alias: Müllerian hypoplasia
• Alias: Müllerian hypoplasia, renal agenesis, cervicothoracic somite dysplasia
• Alias: Rokitansky Kuster Hauser syndrome
• Alias: Rokitansky syndrome
• Alias: Urogenital adysplasia
• Alias: Uterus bipartitus solidus rudimentarius cum vagina solida
• Alias: Von Mayer-Rokitansky-Kuster anomaly
• Alias: [SERKAL syndrome: female SEx Reversal + dysgenesis of Kidneys, Adrenals, Lungs]
• Allelic: Deafness, AD 80 (GREB1L)
• Allelic: Diabetes mellitus, noninsulin-dependent (HNF1B)
• Allelic: Langer mesomelic dysplasia (SHOX)
• Allelic: Leri-Weill dyschondrosteosis (SHOX)
• Allelic: Renal cell carcinoma (HNF1B)
• Allelic: Thrombocytopenia-absent radius syndrome (RBM8A)
• MRKH 1, Sy: upper vagina, cervix, uterus affected
• MRKH 2, Sy: associated with additional renal + skeletal malformations, MURCS defects
• MURCS: MÜllerian Renal Cervical Somite causing cervico-thoracic defects
• Mayer-Rokitansky-Kuster-Hauser Syndrome [genecards] (LHX1)
• Mayer-Rokitansky-Kuster-Hauser Syndrome [genecards] (WNT9B)
• Mullerian aplasia + hyperandrogenism (WNT4)
• Renal cysts and diabetes syndrome (HNF1B)
• Renal hypodysplasia/aplasia 3 (GREB1L)
• SERKAL syndrome (WNT4)
• Short stature, idiopathic familial (SHOX)
• Spondylocostal dysostosis 5 (TBX6)