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J Pediatr Genet 2020; 09(03): 193-197
DOI: 10.1055/s-0039-1700577
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Monika Anant 
1   Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Patna, Bihar, India
,
Nutan Raj
1   Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Patna, Bihar, India
,
Neelu Yadav
1   Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Patna, Bihar, India
,
Arun Prasad
2   Department of Pediatrics, All India Institute of Medical Sciences, Patna, Bihar, India
,
Subhash Kumar
3   Department of Radiodiagnosis, All India Institute of Medical Sciences, Patna, Bihar, India
,
Ajit K. Saxena
4   Department of Pathology/Laboratory medicine, All India Institute of Medical Sciences, Patna, Bihar, India
› Author Affiliations Funding None.
Further Information

Publication History

21 May 2019

25 September 2019

Publication Date:
30 October 2019 (online)

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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

amenorrhea - MRKH - 18p deletion

Note

Consent to participate and publication have been obtained from the patient. Data and material of the article are saved with the corresponding author.


Authors' Contributions

M.A., N.R., N.Y., and A.P. were involved with clinical care of the patient directly. S.K. performed imaging studies and their interpretation. A.K.S. is a geneticist.


 

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