Abstract：
UNASSIGNED: To highlight the challenges in diagnosing 46, XY disorder of sex development related to MYRF mutation.
UNASSIGNED: We present an unusual case of a 12-year-old female child came for enlargement of clitoris and initially diagnosed as partial androgen insensitivity syndrome (AIS).
UNASSIGNED: On examination, the patient\'s vulva was found virilized with 3cm-long clitoris. Her peripheral blood karyotype was 46, XY. The ultrasound showed an empty pelvis and hormone results confirmed hyperandrogenism. Therefore, the partial AIS was suspected, but the following whole exon sequencing indicates a pathological missense mutation in MYRF. Further investigation and surgery did not reveal any brain, heart, lung or diaphragm lesions related to MYRF, but only maldeveloped internal genitalia and a persistent urachus. Her serum testosterone dropped to normal after surgical removal of the remaining ipsilateral testis and epididymitis without spermatogenesis as shown by pathology.
UNASSIGNED: Due to the karyotype, hyperandrogenism, empty pelvis but a virilism after puberty, the patient was initially diagnosed as partial AIS. This misleading clinical diagnose will not be verified as the MYRF mutation if without the whole exon sequencing, particularly in the absence of obvious brain, heart, lung and diaphragm lesions as in this case.
UNASSIGNED: We present an unusual case of a 12-year-old female child came for enlargement of clitoris and initially diagnosed as partial androgen insensitivity syndrome (AIS).
UNASSIGNED: On examination, the patient\'s vulva was found virilized with 3cm-long clitoris. Her peripheral blood karyotype was 46, XY. The ultrasound showed an empty pelvis and hormone results confirmed hyperandrogenism. Therefore, the partial AIS was suspected, but the following whole exon sequencing indicates a pathological missense mutation in MYRF. Further investigation and surgery did not reveal any brain, heart, lung or diaphragm lesions related to MYRF, but only maldeveloped internal genitalia and a persistent urachus. Her serum testosterone dropped to normal after surgical removal of the remaining ipsilateral testis and epididymitis without spermatogenesis as shown by pathology.
UNASSIGNED: Due to the karyotype, hyperandrogenism, empty pelvis but a virilism after puberty, the patient was initially diagnosed as partial AIS. This misleading clinical diagnose will not be verified as the MYRF mutation if without the whole exon sequencing, particularly in the absence of obvious brain, heart, lung and diaphragm lesions as in this case.
摘要：
■强调诊断与MYRF突变相关的46，XY性发育障碍的挑战。
■我们介绍了一个不寻常的病例，一个12岁的女性儿童因阴蒂增大而来，最初被诊断为部分雄激素不敏感综合征（AIS）。
■关于考试，患者的外阴被发现有3厘米长的阴蒂。她的外周血核型为46，XY。超声显示骨盆空，激素结果证实雄激素过多症。因此,部分AIS被怀疑，但是以下整个外显子测序表明MYRF中存在病理性错义突变。进一步的调查和手术没有发现任何大脑，心,与MYRF相关的肺或膈肌病变，但只有内部生殖器发育不良和持续性的脐带血。如病理所示，在手术切除剩余的同侧睾丸和附睾炎后，她的血清睾酮降至正常。
■由于核型，雄激素过多症,骨盆空，但青春期后有男子气，患者最初被诊断为部分AIS.如果没有整个外显子测序，这种误导性的临床诊断将不会被验证为MYRF突变，特别是在没有明显大脑的情况下，心,在这种情况下，肺和隔膜病变。
■我们介绍了一个不寻常的病例，一个12岁的女性儿童因阴蒂增大而来，最初被诊断为部分雄激素不敏感综合征（AIS）。
■关于考试，患者的外阴被发现有3厘米长的阴蒂。她的外周血核型为46，XY。超声显示骨盆空，激素结果证实雄激素过多症。因此,部分AIS被怀疑，但是以下整个外显子测序表明MYRF中存在病理性错义突变。进一步的调查和手术没有发现任何大脑，心,与MYRF相关的肺或膈肌病变，但只有内部生殖器发育不良和持续性的脐带血。如病理所示，在手术切除剩余的同侧睾丸和附睾炎后，她的血清睾酮降至正常。
■由于核型，雄激素过多症,骨盆空，但青春期后有男子气，患者最初被诊断为部分AIS.如果没有整个外显子测序，这种误导性的临床诊断将不会被验证为MYRF突变，特别是在没有明显大脑的情况下，心,在这种情况下，肺和隔膜病变。
