Androgen insensitivity syndrome

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Presentation transcript:

Androgen insensitivity syndrome Prof Ieuan A Hughes, MD, John D Davies, PhD, Trevor I Bunch, Vickie Pasterski, PhD, Kiki Mastroyannopoulou, BSc, Jane MacDougall, MD The Lancet Volume 380, Issue 9851, Pages 1419-1428 (October 2012) DOI: 10.1016/S0140-6736(12)60071-3 Copyright © 2012 Elsevier Ltd Terms and Conditions

Figure 1 Simplified pathway of fetal sex development AR=androgen receptor. CAIS=complete androgen insensitivity syndrome. AMH=antimüllerian hormone. The Lancet 2012 380, 1419-1428DOI: (10.1016/S0140-6736(12)60071-3) Copyright © 2012 Elsevier Ltd Terms and Conditions

Figure 2 Mutations in the DNA-binding domain first zinc finger The effects of substitution of a valine (V) at codon 582 in the DNA-binding domain with phenylalanine (F), glycine (G), and leucine (L) are shown in a transactivation assay with the synthetic androgen mibolerone. Responsiveness of the reporter gene is related to a complete or partial androgen insensitivity syndrome phenotype. The linear stretch of aminoacids comprising the DNA-binding domain is also shown. Mib=mibolerone. CAIS=complete androgen insensitivity syndrome. PAIS=partial androgen insensitivity syndrome. The Lancet 2012 380, 1419-1428DOI: (10.1016/S0140-6736(12)60071-3) Copyright © 2012 Elsevier Ltd Terms and Conditions

Figure 3 Gonadal tumours in complete androgen insensitivity syndrome Representative examples of the histology of intratubular germ-cell neoplasia (or carcinoma in situ) (A), gonadoblastoma (B), and dysgerminoma (C) in gonads from patients with complete androgen insensitivity syndrome, and germ cells indicative of carcinoma in situ stained with placental-like alkaline phosphatase (PLAP; D). The Lancet 2012 380, 1419-1428DOI: (10.1016/S0140-6736(12)60071-3) Copyright © 2012 Elsevier Ltd Terms and Conditions