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Case Reports
. 2020 Sep;9(3):193-197.
doi: 10.1055/s-0039-1700577. Epub 2019 Oct 30.

Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer-Rokitansky-Kuster-Hauser Syndromes

Monika Anant  1 , Nutan Raj  1 , Neelu Yadav  1 , Arun Prasad  2 , Subhash Kumar  3 , Ajit K Saxena  4
Affiliations
Case Reports

Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer-Rokitansky-Kuster-Hauser Syndromes

Monika Anant et al. J Pediatr Genet. 2020 Sep.

Abstract

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome and 18p deletion syndrome, two genetic disorders having distinct genetic etiologies, have an exceedingly rare likelihood of coexistence. Vaginal agenesis or MRKH syndrome, the developmental failure of Mullerian ductal system-derived structures in a genotypic female fetus (46, XX), leads to congenital absence of uterus and vagina in variable degree. The 18p deletion syndrome is a rare chromosomal disorder, characterized by dysmorphic features, stunted growth, and mental retardation, which is caused by deletion of a part or all of the short arm of chromosome 18. A detailed evaluation of primary amenorrhea in a 16-year-old girl yielded both MRKH syndrome and 18p deletion syndrome. Extensive literature search could not identify any reported case bearing this combination of syndromes. This case presentation and review emphasizes on the importance of karyotyping in MRKH patients having atypical features.

Keywords: 18p deletion; MRKH; amenorrhea.

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Conflict of interest statement

Conflict of Interest None declared.

Figures

Fig. 1
Fig. 1
Features on face: broad flat nose, low set ears, shallow philtrum, downturned mouth corners, expressionless and round face, and short neck.
Fig. 2
Fig. 2
Short fourth and fifth metacarpals.
Fig. 3
Fig. 3
Short and overlapping toe (brachymetatarsia).
Fig. 4
Fig. 4
MRI of abdomen and pelvis showing absence of uterus and left kidney. MRI, magnetic resonance imaging.
Fig. 5
Fig. 5
Karyotype report showing 46, XX and deletion of short arm of chromosome 18.
See this image and copyright information in PMC

References

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