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. 2019 Feb 15;21(5):522–524. doi: 10.4103/aja.aja_123_18

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Copyright: © The Author(s)(2019)

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Laparoscopic, histopathological, and genetical examination of the patient with poor pubertal development. (a) Gonad imaging by laparoscopy. (b) Secretory cells and ciliated cells could be found in the oviduct. (c) Primordial follicles could be seen in the streak gonad (marked by arrow). (d) The deletion nucleotide indicated by the arrows was found in the patient, which was not shared by her father, brother or control. (e) According to the family tree, the SRY mutation is de novo. (f) Schematic description of the full-length and truncated SRY proteins. The p.Asn24Ile (N24I) mutation resides in the nNLS domain, and the fsTer60 resides in the HMG box. Scale bars = 100 mm. SG: streak gonad (marked by arrow); FT: fallopian tube; SRY: sex-determining region Y; NLS: nuclear localization; HMG: high mobility group.