Table 2.

Literature review of published cases showing co-existence of Turner syndrome and MRKH syndrome

S.No.	Author (year)	Age of presentation (years)	Karyotype	Ovaries	Uterus	Fallopian tubes	Consanguinity	Other abnormalities
1	Elamparidhi et al (2017)13	17	45,XO	Agenetic	Absent	NA	Absent	Horseshoe kidney Short 4th metacarpal
2	Białka et al (2016)14	17	46,X/X(q10)	Dysgenetic	Hypoplastic	NR	Absent	NA
3	Bhandari and Chaudhary (2017)15	17	46,XX	Agenetic	Absent	NR	Absent	NA
4	Meena et al 16	15	45,XO/46,XX	Agenetic	Absent	NA	Absent	No
5	De Chavez et al (2014)17	18	45,X	Agenetic	Absent	NA	NA	---
6	Kebaili et al (2013)18	21	46,XX	Agenetic	Absent	Absent	Absent	No malformation
7	Vaddadi et al (2013)3	35	45,X	Agenetic	Absent	NA	Present	Primary hypothyroidism
8	Shah et al (2013)7	21	46,XX	Agenetic	Absent	Absent	Absent	-------
9	Bousfiha et al (2010)19	19	46,XX	Dysgenetic	Absent	Absent	Absent	None
10	Tatar et al (2009)2	2 sisters (34 and 23)	46,XX	Agenetic	Hypoplastic	Hypoplastic	Present	Partial alopecia, mental retardation, microcephaly, kyphosis, sensorineural deafness in one of them
11	Zaman and Nisar (2009)8	2 sisters (22 and 13	46,XX	Dysgenetic	One absent the other, rudimentary	Hypoplastic	Present	Hypoplastic vagina, alopecia totalis
12	Güven et al (2008)20	17	45,X/46,X delX (p11.21)	Agenetic	Absent	NR	Absent	Short stature, bone age was 12
13	Marcial SG(2008)4	NA	45,X6 (46,X,i(X) (q10)16)	NA	Absent	NA	Present	No abnormality
14	Kumar et al (2007)21	18	46,XX	Rt. side agenetic	Absent	NR	Absent	Solitary malrotated pelvic kidney with PUJ obstruction
15	Colombani et al (2007)9	15	46,XX	Dysgenetic	Absent	N	Present	Autoimmune thyroiditis with secondary hypothyroidism
16	Marrakchi et al (2004)22	19	46,XX	Dysgenetic	Absent	N	Absent	None
17	Plevraki et al (2004)23	6 patients	46,XX with testis-specific protein 1-Y linked gene (in patients 1 and 4)	Patient 1: left side, agenetic Patient 6: agenetic	Patient 1: hypoplastic uterus with symmetrical uterine buds, with no endometrium Patient 6: uterus, symmetrical hypoplastic	Patient 1: left fallopian tube, absent Patient 6: both fallopian tubes were symmetric, but hypoplastic	Absent	Patient 1: short fourth metacarpal Patient 6: bifid first sacral vertebra, lumbar scoliosis
18	Kaya et al (2003)24	17	46,XX	Left Agenetic	Absent	Right normal left hypoplastic	Absent	Right kidney malrotated
19	Aydos et al (2003)25	19	46,X, del(X)(Pter>q 22)	Agenetic	Rudimentary	NR	Absent	Mild torticollis, cutis marmotara, hallux valgus
20	Mégarbané et al (2003)10	2 sisters	46,XX	Dysgenetic	Hypoplastic	Hypoplastic	Present	Microcephaly, flat occiput, partial alopecia
21	Gorgojo et al (2002)12	17	46,XX	Agenetic	Absent	Absent	Absent	Single pelvic kidney, primary subclinical hypothyroidism
22	Ting and Chang (2002)26	22	45,X/46,X, del(X) (p22.22)	Dysgenetic	Absent	Rudimentary	Absent	Scoliosis of thoracic spine
23	Güitrón-Cantú et al (1995)27	19	45,X/46,Xdic(X)	Agenetic	Absent	N	Absent	None
24	Oyer et al (1994)28	Neonate	46,XX	Agenetic	Defects in Mullerian derivatives	NA	Absent	Diaphragmatic hernia, bicuspid aortic valve
25	Aughton (1993)29	NA	46,XX	Dysgenetic	Absent	Absent	Absent	The girl’s mother and maternal grandmother have low galactose-1-phosphate uridyl transferase activities and heterozygous for classic galactosaemia
26	Alper et al (1985)30	16	NA	Dysgenetic	Absent	NA	Absent	Normal vagina
27	Al-Awadi et al (1985)11	2 sisters (18 and 16)	46,XX	One agenetic, other dysgenetic	Hypoplastic	One absent, other hypoplastic	Present	Partial alopecia
28	De Leon et al (1984)31	NA	46,X,i(Xq)	Agenetic	Absent	NR	Absent	Subtle features of Turner syndrome
29	Levinson et al 32	17	46,XX	Agenetic	Absent	Absent	Absent	Absent vagina, double ureter on left

Courtesy, Meena A, Daga MK, Dixit R. Unusual association of Turner syndrome and Mayer-Rokitansky-Kuster-Hauser syndrome. BMJ case reports. 2016; 2016. doi: 10.1136/bcr-2015–2 12 634. PubMed PMID: 27207981; PubMed Central PMCID: PMC4885519.

n, normal; NA, not available; NR,not reported; PUJ, pelvi ureteral junction.