ESPE Abstracts (2018) 89 P-P2-340

Awareness is The Key: Heavy Delay in Diagnosis of 17-[beta]-Hydroxysteroid-Dehydrogenase III Deficiency (17bHSD3D) and Other Insights and Conclusions from a Cohort of Ten 17bHSD3D Patients in Germany

Jakob Meinela, Nadine Grossmüllera & Annette Richter-Unruha,b

aMVZ Dr. Eberhard & Partner Dortmund, Dortmund, Germany; bUniversity Children’s Hospital Münster, Münster, Germany

Background/Objective: 17bHSD3D is a rare genetic disorder that leads to disorders of sex development (DSD) in 46,XY patients. Phenotype at birth ranges from unsuspicious female genitalia to micropenises. Besides molecular genetic testing no reliable lab parameters have been established for pre-identifying patients through basal steroid-levels or hCG-testing. This bares the risk of under-, mis- or late diagnosis. Further, little research has been performed on psychological wellbeing, gender identification and gender related behaviour of affected patients. We aim to share insights from our cohort of 17bHSD3D patients in these fields of interest.

Method: Blood hormone levels from 10 17bHSD3D patients from Nordrhein-Westfalen, Germany were collected for signs of possible patterns in steroid profiles. Information on time to diagnosis was drawn from case histories. Semi-structured interviews with patients and parents were performed for information on psychological wellbeing and gender identity.

Results: Mean age at diagnosis of DSD and 17bHSD3D were 4.3 and 10.9 years respectively. 5 patient’s steroid profiles were determined before gonadectomy and commencement of hormonotherapy and thus could be considered for evaluation, resulting in sample size too small to draw definitive conclusions. It remains noteworthy that all patients with gonads showed androstendion and estrone levels above tanner-related reference values. This may be approached for further research. Basal testosterone/androstendione-quotient was below 0.62 regardless of gonadectomy. As of April 2018 5 semi-structured interviews were conducted, 3 are still pending and 2 patients did not wish to be interviewed. All 5 were declared as female. 2 now identify themselves as male and 3 as female. However, 2 female-identifying patients showed male gender related behaviour and were less confident about their gender. One male-identifying patient continues to struggle with his gender, after his begun gender reassignment during early adolescence.

Conclusion: This highlights the relevance of gender neutral upbringing of 46,XY 17bHSD3D patients to allow development to both male and female gender. Further gender reassignment should be deferred until 18 years for a more deliberate decision to be possible. An average 6-year delay between diagnosis of DSD and 17bHSD3D emphasizes the need for increased awareness among physicians as well as clear diagnostic procedures for 17bHSD3D to allow for swifter diagnosis thus reducing burden for patients and family through the limbo of unclear etiology. Further, our interviews showed that patients may present with gender dysphoria before diagnosis of DSD, thus physicians should consider DSD and hence 17bHSD3D in these patients too.

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