ESPE2023 Poster Category 1 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (56 abstracts)
Gonadal histopathology in 17beta-HSD deficiency and 5alpha-reductase deficiency
L.S. Boogers 1 , H.T. Brüggenwirth 2 , Y. van Bever 2 , R. Hersmus 2 , J. Bryce 3 , S.F. Ahmed 3,4 , A.K. Lucas-Herald 3 , F. Baronio 5 , M. Cools 6 , M. Ellaithi 7 , E. Globa 8 , T. Güran 9 , O. Hiort 10 , P.M. Holterhus 11 , K. MсElreavey 12 , M. Niedziela 13 , M.R. Stancampiano 14 , B.G. Tosun 9 , K.P. Wolffenbuttel 2 , J.W. Oosterhuis 15,2 , L.H.J. Looijenga 2,15 & S.E. Hannema 1
1Amsterdam UMC, location VUmc, Amsterdam, Netherlands. 2Erasmus University Medical Centr, Rotterdam, Netherlands. 3University of Glasgow, Glasgow, United Kingdom. 4Leiden University Medical Centre, Leiden, Netherlands. 5IRCSS AOU S.Orsola-Malpighi University Hospital, Bologna, Italy. 6Ghent University Hospital, Ghent, Belgium. 7Al-Neelain University, Kartoum, Sudan. 8MoH of Ukraine, Kyiv, Ukraine. 9Marmara University Faculty of Medicine, Istanbul, Turkey. 10University of Lübeck, Lübeck, Germany. 11University Hospital of Schleswig-Holstein and Christian Albrechts University, Kiel, Germany. 12Institut Pasteur, Paris, France. 13Poznan University of Medical Sciences, Poznan, Poland. 14Scientific Institute San Raffaele, Milan, Italy. 15Princess Máxima Centre for Pediatric Oncology, Utrecht, Netherlands
Introduction: In various forms of XY disorders/differences of sex development (DSD) the risk of germ cell cancer is increased. In the 2006 DSD consensus statement this risk was estimated to be intermediate in 17beta-HSDtype3 deficiency (HSD17B3D) and low in 5alpha-reductasetype2 deficiency (SRD5A2D) but based on very few cases. Few studies have been performed since; therefore we aimed to review gonadal pathology in an international cohort with these conditions.
Methods: Individuals with HSD17B3D and SRD5A2D aged >16 years in the I-DSD Registry were eligible. When a gonadectomy or gonadal biopsy had been performed, blocks, slides or images of gonadal tissue were requested for uniform analysis. Hematoxylin, eosin, immunohistochemical stainings for SOX9, OCT4, TSPY and SCF (KITL), and double stainings for OCT4 and TSPY were performed.
Results: 118 individuals were eligible. Ten centres from nine countries supplied data of 18 individuals with HSD17B3D (15 females), of whom 13 had gonadectomy, and 18 with SRD5A2D (eight females), of whom six had gonadectomy. Tissue samples from nine individuals with 17betaHSDD were available from gonadectomies at median age 4 years (range 0-16). One, 13 year-old had no germ cells; all others showed severe germ cell loss. The precursor lesion germ cell neoplasia in situ (GCNIS) or malignant germ cell tumours were not observed. Most individuals were prepubertal; in one, 16 year-old, spermatogenesis was arrested at the stage of spermatogonia. Remarkable Leydig cell hyperplasia was seen in the individuals aged 13 and 16 years. Dissociation of the poorly developed rete testis and epididymis was frequently observed. Gonadal tissue was available from one individual with SRD5A2D and photographs of gonadal histopathology from another, collected at age 0 and 11 years. The youngest had normal numbers of germ cells but many germ cells showed regressive features such as polynuclear cells. GCNIS or malignant germ cell tumours were not observed. In two of eleven males who had testes in situ, monitoring of the testes took place, in one through self-examination, in the other through ultrasound.
Discussion: Despite international collaboration it proved difficult to obtain gonadal tissue for central review due to practical, ethical and legal issues. The absence of (pre)malignant germ cells in nine individuals with HSD17B3D suggests a low risk of germ cell cancer, at least until adolescence. Insufficient data were available to assess the risk in SRD5A2D. Self-examination is advised for all individuals with a history of undescended testes; implementation of this recommendation deserves attention.
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