Disorders of Sex Development (DSD) Case Study

Our multidisciplinary team approach ensures children with disorders of sex development (DSD) get the best possible care.

The following cases represent the kinds of children referred to us for evaluation and exemplify the ways our team works together to accurately diagnosis and care for children with DSD.

Our team is comprised of colleagues in urology, endocrinology and genetics. Our pediatric psychologist is available to families during the diagnostic process and throughout a child’s care at CHOP. We work together to ensure each child’s evaluation is efficient and thorough.

Case study: Patient 1

Patient 1 is a female, 16 and a half years old, who was originally referred to the Division of Endocrinology at CHOP for primary amenhorrea.

  • Breast development was noted at 13 years but there has been no increase in breast size.
  • Pubic and axillary hair were noted within one year of referral.
  • An outside ultrasound showed no uterus or ovaries.
  • Physical exam reveals a normal vaginal introitus with hymen present.
  • Breasts are Tanner 3, but seem to be more fatty than mammary tissue.
  • Lab tests were significant for absent estradiol, elevated gonadotropins and a mildly elevated DHEAs with normal testosterone.
  • A karyotype was requested by the endocrinologist and was found to be 46, XY
    (SRY gene +).

Of note, the patient has always been tall. She grew 2 inches in the past year and is at the 99th percentile for her age.

The patient was started on estrogen therapy and referred to Urology for further workup.

Work-up and diagnosis

The working diagnoses for patient 1 following her initial workup were probable complete androgen insensitivity vs. early testicular/gonadal failure (dysgenesis).

We recommended an MRI with gadolinium of her abdomen and pelvis to further delineate her anatomy. The MRI showed an infantile uterus with no discernible gonads. During a laparoscopic evaluation, two dysplastic gonads attached to small fallopian tubes and a rudimentary uterus were visualized. Given these findings and her karyotype analysis, it was determined that gonadectomies would be performed due to the increased risk of cancer. A fallopian tube was identified on the right and a streak gonad containing a microscopic gonadoblastoma (3 mm) was identified on the left.

Based on these findings, a final diagnosis of pure gonadal dysgenesis (Swyer Syndrome) was confirmed. Patient 1 has continued follow-up with endocrinology for estrogen management, counseling related to coming to terms with her diagnosis, and she is scheduled for consultation with oncology regarding the gonadoblastoma.

Case study: Patient 2

Patient 2 is a 2-day-old infant who was transferred to CHOP from an outside hospital with a referral concern of ambiguous genitalia. The child was born at 41 weeks gestation with no complications and no other obvious medical concerns.

  • On physical exam, the child has a stretched phallic length of about 2.5 cm.
  • There is a dorsal hooded prepuce.
  • There appears to be a single interlabial opening.
  • The child is voiding without difficulty.
  • There is nonfusion of the inner and outer labia
  • There are no significant rugae to the outer labia.
  • A gonad on the left is palpable.
  • The anus is in the normal position.
  • Urology requested that Endocrinology and Genetics be consulted.
  • Lab tests were normal.
  • Pelvic ultrasound revealed a midline Mullerian structure behind the bladder.
  • Gonads were not definitely identified.
  • A karyotype was obtained and found to be 45, XO/46, X ring Y.

Work-up and diagnosis

For patient 2 an MRI at 9 weeks of age revealed a left inguinal gonad, no discernible right gonad, and a possible right hemiuterus. Blood tests were done at the time of the MRI to assess gonadotropins and androgen production at the expected normal gonadotropin surge at 60-90d of life.

We recommended an exam under anesthesia with exploration of the pelvic structures. Although the parents had been referring to their baby as a girl and had named her and dressed her accordingly, they requested that we not do anything that would prevent the gender of rearing from being male if that is what they later decided. Thus, it was decided that if the palpable gonad was found to be a testis, it would be brought into the labioscrotal folds. The parents wanted no genital reconstruction at that time.

On cystoscopy, a vaginal canal and abnormal cervix were visible. During the inguinal exploration, a dysgenetic testis with a completely detached epididymis was seen on the left and a streak gonad was found on the right. These findings confirmed the diagnosis of mixed gonadal dysgenesis. The left testis was brought to the labioscrotal folds and the streak gonad on the right was removed. In follow-up discussions with the parents, they decided to remove the left severely dysgenetic testis but deferred all other genital reconstruction.

We will continue to follow patient 2 and her family throughout her childhood, in conjunction with our colleagues in endocrinology.

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