Background: The Prader and Quigley classifications (P/Q-C), used widely to evaluate external/internal genitalia in differences/disorders of sexual development (DSD) patients, are sometimes unsuitable for determining the stage/grade because they were originally designed to assess 46,XX 21-hydroxylase deficiency (21OHD) and 46,XY androgen receptor defects (ARD), respectively. The external masculinization score (EMS) is also used to assess masculinization of the external genitalia in 46,XY DSD.
Aim: To create a simpler, more comprehensive DSD scoring system.
Methods: Our scoring system (DSD scoring system; DSD-SS) was developed to assess all DSD types in neonates and infants irrespective of gender assignment and consists of six items pertaining to the external/internal genitalia and gonads, including a) growth and fusion of scrotum/labia majora, b) glans penis development, c) urethral orifice position, d) presence or absence of the urogenital sinus, e) presence or absence of the uterus, and f) gonadal position (scrotal, inguinal, or abdominal). Each item has two to four ranks (for a score of 0 to 6), with the normal male pattern having the highest score. The DSD-SS was validated as follows: photographs of eight DSD patients illustrating conditions a), b), and c) above were scored by 45 physicians with zero to over 20 years of experience with DSD. Then, the differences in their scores were assessed. Next, the results of the DSD-SS were compared with those of the P/Q-C and EMS using photographs and medical records of patients with 21OHD, ARD, and 45,X/46,XY. Finally, two authors compared the scores for four DSD patients based on direct physical examination and photographs.
Results: No inter-observer variation was found, except in the items pertaining to scrotal/labia majora growth and the glans penis. 45,X/46,XY patients with the same P/Q-C grade had quite similar scores using the DSD-SS. In addition, 45,X/46.XY patients who were unable to be classified in one specific stage/grade by the P/Q-C were able to be classified using the DSD-SS. Assessment of the degree of virilization in 21OHD, ARD, and 45,X/46,XY patients using the DSD-SS corresponded to the results of the P/Q-C. The EMS and the sum of the new scores for external genitalia correlated in seven cases of 45,X/46,XY. A close correspondence in scores based on a direct physical examination or photographs was also seen.
Conclusion: The new DSD scoring system enabled simple and comprehensive evaluation of fetal sex development.
This is a side-by-side submission with the presentation by Kawai et al. (submission No. 669)
19 - 21 Sep 2019
European Society for Paediatric Endocrinology