scholarly journals A case of ectopic testis: an intraoperative enigma instead of a diagnostic enigma

2018 ◽  
Vol 5 (3) ◽  
pp. 1127
Author(s):  
Veershetty S. D. ◽  
Manjunath K. ◽  
O. G. Prakash ◽  
K. S. Hanumanthaiah ◽  
Rajagopalan S.

Author present a case of persistent mullerian duct syndrome with transverse testicular ectopia with bilateral hernia uteri inguinalis in a 17 years old boy. This is a rare congenital anomaly and an uncommon form of male pseudo-hermaphroditism characterized by the persistence of well-developed Mullerian duct structures in an otherwise normal male with a 46 XY karyotype. Transverse testicular ectopia (TTE) is one of the rarest forms of testicular ectopia. In this condition, both testes are located on one inguinal side and the opposite inguinal canal and scrotum are empty. TTE associated with PMDS is much rarer. The exact cause of PMDS is uncertain. However, it is thought to result from the failure of synthesis or release of Mullerian inhibiting factor (MIF), the failure of end organs to respond to MIF, or a defect in the timing of the release of MIF. Patients with PMDS present with unilateral or bilateral cryptorchidism and an inguinal hernia containing a fallopian tube, uterus and testis. The case was diagnosed on doing diagnostic laparoscopy followed by bilateral inguinal herniorrhaphy and right Orchidectomy. 

2021 ◽  
pp. 1-6
Author(s):  
Evgenia Globa ◽  
Nataliya Zelinska ◽  
Nina Siryk ◽  
Anu Bashamboo ◽  
Kenneth McElreavey

Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive disorder characterized by the lack of regression of the derivatives of the Müllerian ducts in males. Boys with this condition usually present with unilateral or bilateral cryptorchidism, inguinal hernias, and reproductive disorders with normal male genitalia. Variants in the AMH or AMHR2 genes are responsible for the development of this syndrome. The genetic diagnosis and surgery in PMDS is challenging for both the endocrinologist and the urologist. Here, we describe the management of 2 siblings from 1 family who presented with bilateral cryptorchidism and hypospadias at birth. One child had testis located in the pelvis in the position of normal ovaries, while the other child had testis which were located in the inguinal canals (bilateral inguinal cryptorchidism). Exome sequencing revealed a compound heterozygous variant in the AMHR2 gene c.1388G>A, p.R463H and c.1412G>A p.R471H. To our knowledge, hypospadias has not been described in association with PMDS.


2018 ◽  
Vol 30 (1) ◽  
pp. 38-40
Author(s):  
Md Rafiqul Islam ◽  
Md Showkat Ali ◽  
SM Golam Azam

Persistent Mullerian duct syndrome is a condition in which there is presence of Mullerian duct structures (uterus, fallopian tube, vagina etc.) in an otherwise phenotypically, as well as genotypically, normal man. This patient usually presents with unilateral or bilateral cryptorchidism associated with inguinal hernia and ectopic testis. There is the chance of developing malignancy in ectopic testis (incidence being 15%), as well as infertility in case of bilateral cryptorchidism. Our patient suffers from PMDS presents with malignant tumour. The aim of the presentation of this case is to draw the attention in case of unilateral or bilateral cryptorchidism associated with or without inguinal hernia; the possibility of PMDS should be kept in mind to prevent infertility as well as malignancy.Medicine Today 2018 Vol.30(1): 38-40


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