The present case describes first ever reported association of Type II MRKHS and Turner mosaic syndrome along with tubo-ovarian inguinal hernia to the best of our knowledge.

Inguinal hernia of the ovary and fallopian tube is commonly seen in infancy and present within initial 2 years of age [8]. Short inguinal canal, oblique direction of canal in abdominal wall and diverticulum of Nuck are various anatomical conditions which predispose to adnexal entrapment and subsequent inguinal hernia of the Mullerian structures. Various theories postulated for this include non-fusion of the Mullerian ducts leading to hypermobility of the ovary or congenitally elongated ovarian ligaments and patent processus vaginalis (also known as canal of Nuck) which should have been closed by 1 year of post-natal life [9]. Ovarian torsion and infarction have been reported in 2–37% of these cases. Hence herniorrhaphy and reposition of ovary should be considered in all cases including asymptomatic ones [10]. This is essential to preserve ovarian function and may be done through either open or laparoscopic approach.

The exact association of MRKHS with indirect inguinal hernia of ovaries/Mullerian structures is not clear due to under-reporting of most of the cases. Table 1 describes the cases of MRKHS along with ovarian inguinal hernia. This association is often discovered incidentally through diagnostic imaging when patients present with local pain arising from a hernia, primary amenorrhoea or even later in life with infertility issues. In our case, it was detected as while patient presented with primary amenorrhea and examination revealed inguinal swelling.

Our case emphasizes the importance of complete work up, detailed examination, and hormone analysis in these patients. The clinical features did not fit into any one disorder as patient had features of Turner syndrome (short height, webbed neck, severe hypertension); MRKHS (primary amenorrhea, normal secondary sexual characteristics, blind vagina, absent uterus); and androgen insensitivity syndrome (primary amenorrhea, blind vagina, absent uterus and inguinal mass).

Karyotype testing in these atypical cases is the most important and crucial investigation before clinching the final diagnosis. The indication of karyotype testing in MRKHS is to differentiate it from androgen insensitivity syndrome or if patient has clinical findings not fitting into diagnosis of MRKHS. Also, in patients presenting with inguinal masses, the importance of karyotype can’t be ignored as inguinal mass may be either testis or undifferentiated gonads with Y-line component. Magnetic Resonance Imaging (MRI) is essential to delineate the anatomy of renal and reproductive organs including uterus, fallopian tubes, exact location of ovaries, anatomy of contents of inguinal canal. This will also help to counsel the patient and family, extent and route of surgery, decision to preserve the ovary/contents of inguinal canal. Especially in cases with Turner mosaic, ruling out Y-line germ cells is very important as presence of Y-line will warrant gonadectomy.

Early diagnosis and timely management are the key as ovary is prone to torsion and infarction in the inguinal canal. In a recent systematic search of literature of 17 cases of ovarian hernia were identified in reproductive aged women, 15 of which underwent an emergency surgery as they presented with tender irreducible lump. The most common surgery performed included repositioning of structures with repair of hernia, however, oophorectomy and salpingo-oophorectomy was required in 2 cases each respectively [21]. Early identification of inguinal hernia and prompt surgical intervention plays a vital role in management of such cases as the prolapsed ovary may undergo torsion, incarceration and may need surgical removal if vitality is lost. In asymptomatic females which may remain undiagnosed, ectopic location of ovaries itself might be predisposing factor for early ovarian ageing and malignancies. Our patient did not require oophorectomy /salpingo-oophorectomy and was managed by laparoscopic repair of the hernia along with repositioning of the structures.

Although karyotype is normal in typical MRKH syndrome, rarely cases have been reported of association if MRKHS with different types of gonadal dysgenesis. In a recent case report of MRKHS and Turner syndrome, the authors reviewed the literature and their case was the 26th ever reported case of association of MRKH and Turner syndrome [6]. Our case is the 27th showing association of Mullerian agenesis and Turner syndrome.

Indications of echocardiography include severe hypertension as in the present case to rule out cardiac dysfunction and renal vascular anomalies especially renal artery stenosis. Our case had ectopic and mal-rotated left kidney and getting blood supply from left and right common iliac arteries. These investigations are warranted in females with Turner syndrome.

Exact reason for unusual association of Mullerian agenesis and gonadal dysgenesis is not clear and needs further exploring the genetic basis of these rare combinations. These patients are at risk of hypertension, osteoporosis and premature ovarian insufficiency/ ovarian failure. Long term hormone replacement therapy may be required but the problem of infertility remains unsolved due to both ovarian factor and uterine factor (Mullerian agenesis). Sexual function can be provided either by passive vaginal dilatation or vaginoplasty as per patient choice. Psychological counselling of patient and family and long-term follow-up should be combined with routine medical care of these patients.