Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

<p>Abstract</p> <p>Background</p> <p>Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with other congenital malformations, including renal, skeletal, hearing and heart defects. This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood.</p> <p>Methods and Results</p> <p>we report on two patients affected by MRKH syndrome in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at chromosome 17q12. One patient was affected by complete absence of uterus and vagina, with bilaterally normal ovaries, while the other displayed agenesis of the upper part of vagina, right unicornuate uterus, non cavitating rudimentary left horn and bilaterally multicystic kidneys. The deletion encompassed two candidate genes, <it>TCF2 </it>and <it>LHX1</it>. Mutational screening of these genes in a selected group of 20 MRKH females without 17q12 deletion was negative.</p> <p>Conclusion</p> <p>Deletion 17q12 is a rare albeit recurrent anomaly mediated by segmental duplications, previously reported in subjects with developmental kidney abnormalities and diabetes. The present two patients expand the clinical spectrum associated with this imbalance and suggest that this region is a candidate locus for a subset of MRKH syndrome individuals, with or without renal defects.</p

Medical Management of Endometriosis.

Endometriosis is a chronic medical condition that affects around 6–10 % of reproductive age women. Pelvic pain, dysmenorrhea and infertility are the most common presenting symptoms. The disease is characterized by estrogen dependent growth of the endometrial glands and stroma outside the endometrial cavity. The diagnosis requires a high degree of suspicion and can be only confirmed on histopathology. Treatment includes medical and surgical options. Both hormonal and non-hormonal medical options are available and are tried at first with a goal to control pain and stop the growth of the endometriotic lesions. NSAIDs, oral contraceptive pills, GnRH agonists, aromatase inhibitors are some of the commonly used medications. With more research on the molecular and biochemical aspects of endometriosis, newer targets of therapy are being developed like selective progesterone receptor modulators, anti-angiogenic factors and immunomodulators. In women who do not respond to medical therapy or have severe symptoms, surgical excision of the endometrial lesions and adhesions is often helpful and offers confirmatory diagnosis by histopathology

Radical excision of inguinal endometriosis

BACKGROUND: The diagnosis of inguinal endometriosis can be complex, and patients are often first operated by a general surgeon for a hernia. We present five cases of inguinal endometriosis in which primary surgery resulted in recurrence and a second correct procedure resulted in a cure. CASES: Five patients with inguinal endometriosis, operated between 1996 and 2002, were seen for the recurrence of symptoms. All underwent excision of the extraperitoneal portion of the round ligament and pelvic exploration. In all cases, both pelvic and round ligament endometriosic lesions were confirmed at histology. No complications or recurrence of inguinal endometriosis occurred. CONCLUSION: The complete excision of inguinal endometriosis must also include the extraperitoneal portion of the round ligament