Division of Urology

Disorders of Sex Development (DSD) Case Studies

At The Children’s Hospital of Philadelphia’s Division of Urology, we believe a multidisciplinary team is critical to providing the best care for children with disorders of sex development (DSD).

The following cases represent the kinds of children referred to us for evaluation, and their management exemplifies the team approach we take in coming to an accurate diagnosis for children with DSD.

Our team, led by Attending Urologist Thomas Kolon, MD, is comprised of colleagues in urology, endocrinology and genetics, and 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 16-year, 6-month-old female who was originally referred to the Division of Endocrinology at CHOP for primary amenhorrea.

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, with Dr. Schast for 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.

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. Bloodwork was 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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