Penile agenesis (afallia) in pueros

Introduction. Penile agenesis (aphallia) is an extremely rare congenital defect characterized by the complete absence of the penis in a child with a male karyotype 46XY.Material. The analysis of the literature on keywords in the Pubmed and Medline databases was carried out.Results. The incidence of aphallia is estimated 1 out of 10-40 million newborn boys. Aphallia, in spite of its rarity, is a congenital defect which is thoroughly described in the medical literature. The combination of agenesis of the penis with other congenital anomalies often leads to death in such children. Currently, it is believed that these patients should be left with their genetic male sex, therefore, there is a difficult dilemma of choosing the optimal method and age for creating the neophallus and neourethra.Conclusions. The rarity of the aphallia determines the lack of publications covering the long-term results of phalloplasty in both children and adults.

De Castro falloplasty of the with penile agenesis

Introduction. Penile agenesis (aphallia) is an extremely rare congenital disorder. At present, about 100 cases of the anomaly have been described around the world. The incidence of this congenital anomaly is estimated to be one case per 2030 million births. One of the most commonly used reconstructive procedures today is the technique proposed by Roberto De Castro in 2007. In this article, we present a clinical case of aphallia in a boy who underwent phalloplasty. Materials and methods. A newborn boy presented with aphallia, combined with abnormal development of both kidneys. At birth, the child had difficult urination through the fistula at the edge of the anus. The meatotomy and urethral dilation were performed on the fifth day of the infant`s life. On day 28 of the child`s life, surgical intervention was performed to remove the left non-functioning kidney and a right cutaneous ureterostomy because of the recurrence of febrile urinary tract infection. At 13 months, the tissue expander was installed above the pubic bone. At 16 months, the child underwent the De Castro phalloplasty technique while in the supine position. Results. The child was examined 3, 6, and 12 months after the surgical treatment. Phalloplasty has had good outcomes as evaluated by parents and surgeons. At present, the boy is under the supervision of urologists, who plan to perform further surgical treatment of the urinary system. Conclusion. Phalloplasty, in the case presented, had a good cosmetic result. In our opinion, it proved to be the correct initial stage of treatment for aphallia, an extremely rare genital malformation.

A New Presentation: Aphallia, Vesicoureteral Reflux, Rectovesical Fistula, and Adrenal Insufficiency

Aphallia or penile agenesis is a rare congenital malformation with an estimated incidence rate of 1 in 10 to 30 million births. More than half of aphallia cases have associated anomalies including caudal axis, cardiovascular, genitourinary, and gastrointestinal anomalies. The penile agenesis associated with adrenal insufficiency has never been reported in an infant. We report a rare case of a newborn that was diagnosed as a case of aphallia with vesicorectal fistula and vesicoureteral reflux, complicated by adrenal insufficiency with salt-wasting crisis.