PMC5834851_01
Surgical photos. a Laparoscopic view of left and right gonad within the pelvis. b Blind ending vagina at vaginoscopy. c Left gonad and epididymal flanking structure. d Right gonad and epididymal flanking structure
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PMC5834851_01_13633_2018_56_Fig2_HTML.jpg
Fig2
There were bilateral abnormal small gonads with a blind ending epididymal structure flanking each (Fig. 2).
Histopathology. a Right gonad excision biopsy, H&E stain, demonstrating seminiferous tubules lined by Sertoli cells without spermatogenesis. There is intervening fibrosis with no definite Leydig cells. b Left gonad excision biopsy, H&E stain, demonstrating seminiferous tubules lined by Sertoli cells without spermatogenesis. There is intervening fibrosis with occasional, unusually large clusters of Leydig cells. c Left gonad excision, inhibin stain, demonstrating Sertoli and Leydig cell appearance. d Normal testis of 15-year-old, showing seminiferous tubules with spermatogenesis
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PMC5834851_01_13633_2018_56_Fig3_HTML.jpg
Fig3
Histopathology confirmed bilateral dysgenetic testes with no evidence of gonadoblastoma or germ cell neoplasia (Fig. 3).
Three dimensional model of DHH. a SWISS-MODEL generated 3D model of DHH showing residue Leu162, the position of a previously published mutation  and b Arg164, the position of our novel mutation. c Close-up of the mutation L162P and d R164P with the side chains of both the wild-type and mutant residue shown and coloured green and red, respectively. On panels a and b, black arrows point to position of mutations
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PMC5834851_01_13633_2018_56_Fig4_HTML.jpg
Fig4
We generated a three dimensional protein model of DHH (Fig. 4) using SWISS-MODEL (template ID 3n1g.1.A) and we used