ESPE2021 ePoster Category 1 Sex Endocrinology and Gonads A (10 abstracts)
Gonadal Outcome in 17beta-HSD deficiency and 5alpha-reductase deficiency
Lidewij S Boogers 1,2 , Hennie T Brüggenwirth 1 , Yolande van Bever 1 , Remko Hersmus 1 , Jilian Bryce 3 , S Faisal Ahmed 3 , Angela K Lucas-Herald 3 , Federico Baronio 4 , Martine Cools 5 , Mona Ellaithi 6 , Evgenia Globa 7 , Tulay Güran 8 , Busra Gurpinar Tosun 8 , Olaf Hiort 9 , Paul-Martin Holterhus 10 , Ken McElreavey 11 , Marek Niedziela 12 , Marianna Rita Stancampiano 13 , Katja P Wolffenbuttel 1 , J Wolter Oosterhuis 1 , Leendert HJ Looijenga 1,14 & Sabine E Hannema 1,2,15
1Erasmus University Medical Centre, Rotterdam, Netherlands; 2Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands; 3University of Glasgow, Glasgow, United Kingdom; 4Orsola-Malpighi University Hospital, Bologna, Italy; 5Ghent University Hospital, Ghent, Belgium; 6Al-Neelain Medical Research Centre, Khartoum, Sudan; 7Ukrainian Research Center of Endocrine Surgery, Kyiv, Ukraine; 8Marmara University Faculty of Medicine, Istanbul, Turkey; 9University of Lübeck, Lübeck, Germany; 10University Hospital of Schleswig-Holstein and Christian Albrechts University, Kiel, Germany; 11Institut Pasteur, Paris, France; 12Poznan University of Medical Sciences, Poznan, Poland; 13Scientific Institute San Raffaele, Milan, Italy; 14Princess Máxima Centre for Pediatric Oncology, Utrecht, Netherlands; 15Leiden University Medical Centre, Leiden, Netherlands
Introduction: 5α-reductase type 2 deficiency (5α--RD) and 17β-HSD type 3 deficiency (17β-HSDD) are rare differences/disorders of sex development (DSD) in which impairment of steroidogenic enzymes causes undervirilisation in patients with a 46,XY genotype. We aim to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.
Methods: Data on phenotype, laboratory results and hormone treatment from patients with genetically confirmed 5α-RD and 17β -HSDD aged >16 years from 10 centres in nine countries were collected via the International DSD (I-DSD) Registry. When a gonadectomy or gonadal biopsy had been performed, pathology reports were collected as well as gonadal tissue or images. Data are presented as median (IQR) unless stated otherwise.
Results: Patients with 5α R-D (n = 17) were 12.0 years (5.0-16.5) at diagnosis. External genitalia score (EGS) at first presentation was 7.5 (3.9-9.3). Ten patients were assigned female sex. Five patients changed sex (four female to male) at an age ranging from 15 to 23 years. Gonadectomy was performed in six subjects at age 10 years (6.0-18.3). Subjects without gonadectomy entered puberty spontaneously. However, four were treated with dihydrotestosterone during puberty. Patients with 17β-HSDD (n = 16) were 13.5 (7.5-19.0) years at diagnosis and had an EGS of 2.5 (0.9-5.3) at first presentation. All subjects were raised female; three decided to change to the male gender at an age ranging from 16 to 25 years. Three subjects were treated with GnRH analogues to prevent virilisation, one of whom changed to the male gender. In 12 patients a gonadectomy was performed at age 8.0 years (2.5-13.8). Male patients did not require androgen supplementation. No germ cell (pre)malignancy was present based on the 11 available histology reports. Uniform reassessment of gonadal tissue is being performed.
Discussion: A significant percentage (24%) of individuals with 5α-RD and 17β -HSDD changed sex as has been reported in previous studies, mostly in late adolescence/early adulthood. Uncertainty about gender identity development led to the introduction of GnRH analogues in this group of patients to prevent virilisation before making a definitive decision about gonadectomy. When left in situ, endocrine function of the gonads is sufficient in most individuals and germ cell (pre)malignancies seem uncommon in these patients, but central reassessment of gonadal material is ongoing to confirm this finding. Together, these data support a conservative approach towards definitive sex assignment, genital surgery and gonadectomy early in life in these conditions.
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