Checklist for the structural description of the deep phenotype in disorders of sexual development

Abstract

This paper addresses the question, how the variations of the deep phenotype in disorders of sex development (DSD) are appropriately described. This is a relevant question, because extensive phenotypic variability occurs in gonads and sex ducts. With the advance of video endoscopy and laparoscopy, fresh insight in gonadal and sex duct anatomy is emerging. So far, an attempt to standardize the diagnostic approach and, in particular, how to document these findings has not been published. We propose a standardized examination schedule for these procedures. It consists of 5 pictures of relevant anatomic features. For laparoscopy, it includes two pictures each of gonads and sex ducts on either side and an image of the retrovesical space. For endoscopy, the examination of the ureteric orifices, the posterior urethra, and the urogenital sinus derivates is recommended. Adherence of a standardized schedule and image storing enhances patient autonomy, because they can carry their examination for a second opinion without need for repeated examination. Physicians and scientists create a structured image library that facilitates the comparison of clinical outcomes, research on genotype phenotype associations and may lead to better classifications.

Figure 1

Posterior urethra and utriculus in patients with severe hypospadias and partial gonadal dysgenesis. Size and shape of the colliculus vary from patient to patient. The last image shows a normal colliculus for comparison. Note the different backing of the urethral wall and the difference in shape.

Figure 2

Posterior urethra in congenital adrenal hyperplasia. The area around the vaginal opening is represented. Mucosal folds resemble the hypoplastic verum montanum seen in patients with partial gonadal dysgenesis.

Figure 3

Variations in gonadal shape and size observed in patients with gonadal dysgenesis. The image in the top row on the left shows a streak gonad (arrow). The right lower images show a germ-cell tumour replacing a dysgenetic gonad (arrow). For comparison, a normal postpubertal ovary is shown.

Figure 4

Patients with complete androgene insensitivity have normal appearing gonads in the abdomen or the inguinal canal. Sex duct development is highly variable. The lower panel shows cystic dilatation of an epidydimis, the right lower panel a fallopian tube close to a testis (arrow).

Figure 5

Standard views recommended for cystourethroscopy/genitoscopy. Two images should be taken of the ureteral orifices and one of the bladder neck. Moving downward, the bladder neck, the posterior urethra with the colliculus and the vagina/cervix should be documented.

Figure 6

At laparoscopy, 2 images should be taken of each gonad and the attached sex duct. The retrovesical space should be explored for the presence an uterus or vas deferens.