1. A Male Infant with a Unilateral Empty Scrotum: a case study.
Amany Ibrahim
The Pediatric Department, Diabetes Endocrine and Metabolism Pediatric Unit (DEMPU), Children Hospital, Faculty of Medicine, Cairo University.
P6:T6
Background
Investigations
Ovotesticular DSD is defined as the presence of both testicular and ovarian tissues in the same individual, which may take the form of one ovary and one testis or, more commonly, one or two ovo-testes. Most children present with ambiguous genitalia in combination with unilateral or bilateral undescended gonads [1]. Approximately 60% of children with ovotesticular DSD have a 46,XX karyotype; 33% are mosaics with a second cell line containing a chromosome (46,XX/46,XY; 46,XX/46,XXY), and 7% are 46,XY. It represent 3-10% of all sexual disorders [2] .
Karyotyping was done and it was 46 XY
Abdomino-pelvic U/S couldn’t visualize the right testis
Abdomino-pelvic MRI didn’t show the right testicle therefore the patient was scheduled for a diagnostic laparoscope.
Long HCG test (in which the patient was given HCG injection by a dose of 1500 IU/IM on alternate day for 7 injections and the second sample was withdrawn 24 hours after the last injection) was done and revealed good response of the present testis as testosterone post HCG was 6.3 (more than 1 or more than ten times the pre HCG level) (table 1).
Laparoscopy:
Laparoscopy revealed small dysgentic uterus and fallopian tube on the right side in addition to a small sized gonad which is probably an ovary found at the end of the fallopian tube; therefore was biopsied and was sent for pathological assessment.
Biopsy revealed an ovarian stroma with tiny cysts (immature or primordial follicles) (figure (2, 3).
Case History
15 month old boy was referred to the DEMPU from the Pediatric surgical clinic complaining of an empty scrotum on the right side and an ambiguous genitalia. He is the 1st offspring of positive consanguineous marriage.
Table (1): Laboratory Investigations.
Examination
Basal
Post HCG
17 OHP (ng/ml)
0.3
2.2
Progesterone (ng/dl)
0.25
DHEA (ng/ml)
0.4
Testosterone (ng/ml)
0.1
6.3
DHT (ng/dl)
2.6
47.7
∆4 androstendione(ng/ml)
0.2
1.9
The left gonad could be felt in the left scrotal sac and it is of normal size for age (T2), bifid scrotum, penoscrotal hypospadias, hooked phallus, but phallus looked of normal size and girth (about 2.5 cm in length although couldn’t be stretched properly due the presence of chordae).
The right gonad couldn’t be felt either in the scrotal sac (which is also underdeveloped) or in the inguinal canal (empty scrotum).
No abnormal pigmentation or pubic hair could be detected.
Anthropometric data:
Age: 1.31 years
Weight: 8.4 kg, weight SDS: -2.6
Length: 71 cm, length SDS: -3.1
BMI: 16.7, BMI SDS: -0.4
Fig. 2: Histological tissue of ovarian tissue of the case showing multiple primordial follicles lined with flattened epithelial cells (blue arrows) H&E X 400.
Fig. 3: Ovary of case Showing multiple primordial follicles in ovarian tissue (smooth inactive ovary) (yellow arrows) H&E X 200.
Figure (1) External genitalia of our patient.
Outcome and Management
This is a case of 46 XY ovo-testicular DSD.
Discussion of the case was done including the parents who insisted that they wanted their child to be reared as a male.
Therefore, this patient will be reared as male after surgically removing the remnants of the Mullerian structures (hemi-uterus, fallopian tube) and also will undergo corrective surgery for his external genitals (for the hypospadias, bifid scrotum and the chordae).
His other testis (left sided) is functioning well as evidenced by the good phallus size and the good testosterone response in the long HCG test.
He is being followed up owing to the risk of malignancy and will begin sex steroid replacement therapy in puberty.
Suspect DSD in a male appearance with the following associated abnormalities of genitalia :
severe hypospadias with bifid scrotum,
undescended testis/testes with hypospadias,
bilateral non-palpable testes,
micropenis with chordae.
Acknowledgments
References
Diamond DA, Yu RN. Sexual differentiation: normal and abnormal. In: Wein AJ, Kavoussi LR, Novick AC, Partin AW, Peters CA (eds). Campbell-Walsh Urology, 10th edn. 2012, Saunders Elsevier, Philadelphia, pp
2. Krob G, Braun A, Kuhnle U. True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology. Eur J Pediatr 1994;153:2 – 10.
My thanks and grateful appreciation to Prof Dr. Isis Ghali, Prof Dr. Mona Hafez, and Prof Dr. Mona Mammdouh who helped me to set up the proper environment for that work, and who supported me with their valuable remarks and advice as regards this case.