Qiang Shuai, Li Feng Yong, Zhou Yu, Yuan Ye, Li Qiang
10th Department, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Medicine (Baltimore). 2019 Apr;98(15):e15129. doi: 10.1097/MD.0000000000015129.
Absence of the penis, known as aphallia, is a very rare congenital anomaly. It is believed to be a result of either the absence of the genital tubercle or its failure to fully develop and is associated with the level of hormones and chromosomal rearrangements. The failure of the genital tubercle influences the development of the penis and partly depends upon testosterone secreted by Leydig cells of the testis. Chromosomal polymorphisms may affect the functions of protection and regulation, potentially leading to susceptibility to congenital diseases. Herein, an extremely rare case of a congenital absence of the penis is described.
A 3-month-old was brought to the OPD by his parents with complaints of absence of penis since birth and urine being passed rectally. When he was born, he was registered as a boy because his chromosomes were 46XY but with 9qh+. Local examination revealed the total absence of the penis. The scrotum was well developed. The testes were palpable bilaterally. The anal opening was located normally. No urethral orifice could be identified. However, his parents had not yet decided whether to accept treatment. The child has been lost to follow up.
Congenital absence of the penis (aphallia) (46 XY normal male karyotype).
We explained the nature of the abnormality and management options to the parents. However, it was much regretted that the patient was too young to make a decision and that his parents had not made a decision yet. They left without any further contact.
Because the parents left our hospital without any contact, it has not been possible to develop a follow-up plan.
In consideration of the rarity and devastating psychosocial consequences of this case, we accordingly call for active cooperation with doctors to minimize the negative impact of this malformation. Early assignment of gender avoids confusion and contradiction. Parental confidence solidifies the child's own confidence in his or her gender.
阴茎缺如，即无阴茎症，是一种极为罕见的先天性异常。据信，这是由于生殖结节缺失或未能充分发育所致，与激素水平和染色体重排有关。生殖结节发育不良会影响阴茎的发育，部分取决于睾丸间质细胞分泌的睾酮。染色体重多态性可能影响保护和调节功能，从而可能导致易患先天性疾病。在此，描述了一例极为罕见的先天性阴茎缺如病例。
一名3个月大的婴儿被父母带到门诊，自出生以来一直阴茎缺如，尿液经直肠排出。出生时，因其染色体为46XY但9qh+，被登记为男孩。局部检查显示阴茎完全缺如。阴囊发育良好。双侧睾丸可触及。肛门开口位置正常。未发现尿道口。然而，他的父母尚未决定是否接受治疗。该患儿已失访。
先天性阴茎缺如（无阴茎症）（46 XY正常男性核型）。
我们向家长解释了异常的性质和处理方案。然而，很遗憾患者年龄太小无法做出决定，其父母也尚未做出决定。他们离开后没有进一步联系。
由于家长离开我院后未再联系，因此无法制定随访计划。
鉴于该病例的罕见性及其严重的心理社会后果，我们呼吁与医生积极合作，以尽量减少这种畸形的负面影响。早期确定性别可避免混淆和矛盾。父母的信心能增强孩子对自身性别的信心。
