Non-familial male hermaphrodite uterine hernia syndrome (a case report).
Non-familial male hermaphrodite with masculine genitalia without breast development but well formed Mullerian structures with bilateral testes is a rare disease in clinical practice. We haves come across such an unusual case and hence the presentation.
J.P., a 31 year old male, was admitted for right inguinal hernia. He had no history of trauma, chest symptoms, urethritis or cyclic recurrent haematuria. The patient was married for 5 years. He had no sexual dysfunction. He had primary sterility. There was no history of drug ingestion in the first trimester of pregnancy by his mother. There was no family history of any such disorder.
On general examination, the secondary sex characters were found to be well developed. The patient had well developed masculine features, moustache, beard, pubic and axillary hair, and penis. No hypospadias was observed. The scrotum was well developed on the right side with nodular swelling resembling the right testes. There was right-sided, indirect, reducible, inguinal hernia. The left scrotum was poorly developed with non-palpable, undescended testes. There was presence of an impulse on the left side. Rest of the examination was normal.
Semen examination revealed the quantity to be 2.5 ml. There were 10-15 dead sperms seen per high power field but no motile sperms. There were 10-12 pus cells and 6-8 epithelial cells per high power field.
After spinal anaesthesia, an inguinal incision was taken to repair the right inguinal hernia. External oblique aponeurosis was opened. A small nodule in the right scrotum was noticed. The sac was found but the cord structures could not be demonstrated. The sac was opened. An oval mass, 3 cm x 2 cm in size, with a pedicle in the sac in connection with the tubular structure on the right side was seen. On further exploration, these structures were in connection with the uterus, tubular structures on the left side and similar mass on the left side which were delivered in the wound. On the surface of the left-sided mass there was irregularity which was hard in consistency.
As the exposure was inadequate, a midline infra-umbilical incision was taken. The patient was catheterised to empty the bladder. The peritoneum was opened. The uterus and the tubular structures were delivered in the wound. The right-sided mass was found to be smooth and appeared as testes. The mass had vascular supply similar to pampiniform plexus and had spermatic cord. The left sided mass was similar but had a hard nodule on the lateral aspect. The uterus and the cervix were leading to a blind pouch in between the bladder and the sigmoid colon in the pelvis. Safeguarding the ureters, the uterus, tubular structures and suspected ovotestes were removed [Fig. 1]. Pedicles and peritoneum were closed with chronic catgut. The wound was closed in layers and a right inguinal repair was done. The post-operative period was uneventful.
Histopathology revealed atrophic uterus with normal vas deferens [Fig. 2]. Both the masses in the right and left sides of the uterus were underdeveloped testes. Biopsy of the right scrotal mass revealed only fibro fatty tissue. The Barr body count was 17 (border line); Karyotyping was 46XY.
Nonfamilial hermaphroditism with predominently masculine external genitalia without breast development is of two types:
(a) Rudimentary or without Mullerian structures
(b) With well formed Mullerian structures
(i) Bilateral testes
(ii) Unilateral testes, unilateral streak.
Type b (i) is known as uterine hernia syndrome or hernia uteri inguinalis if associated with hernia.
Nilson classified them into 3 types.
I. Uterus, both adnexa-Fallopian tube and testes with appendages are contained in the hernia.
II. The uterus and one adnexa are contained in the hernia.
III. A unicornuate uterus or one horn of didelphic uterus with adnexa contained in the hernia.
Majority are reared as men. Our case belongs to type II.
According to Nelson's hypothesis, foetal testoterone is normal and the affected males are completely virilised. There is however a deficiency of testicular antimullerian hormone with persistence of Mullerian ducts. This disorder may result from a biosynthetic defect of endorgan responsiveness to antimullerian hormone. Exact cause is not known but according to Josso, Mullerian inhibiting activity of fetal testicular tissue was deprived due to in vitro radiation in rats.
We are thankful to the Dean, K.E.M. Hospital, Bombay-400 012 for allowing us to present the data.