An infant with aphallia and its associated complication: A rare case report and review of literature

Introduction

Congenital absence of the penis (aphallia) is an extremely rare genitourinary anomaly with an incidence of one in 10–30 million live births. Only 80 cases have been reported worldwide to date.^1,2 Aphallia is embryologically believed to result either due to complete absence of the genital tubercle or its failure to develop. ² Diagnosis is made by clinical examination, which shows complete absence of the penis, with an abnormal urethral opening and normally developed scrotum with bilateral palpable gonads (testes). More than 50% of these cases have associated anomalies including developmental defects of the caudal axis, other genitourinary (54%), cardiac and gastrointestinal tract anomalies. ³ Both immediate and long-term management of the patients of aphallia pose great dilemmas. This case is reported because though the condition is rare, treatment options are available. By early recognition and timely referral, the child and its family may be helped.

Case

A 6-day old male neonate (birth weight, 2.49 kg) was referred to our hospital for complete penile agenesis. Detailed clinical examination showed absence of the penis (Figure 1) and the presence of an abnormal common opening for urine and stool. To evaluate for aphallia, 17-hydroxy progesterone levels were measured and karyotyping was performed; an ultrasound scan of the abdomen was suggestive of bilateral hydronephrosis and hydro-ureter. A cranial ultrasound and echocardiogram were not suggestive of any anomaly. During his admission, this infant developed sepsis and acute kidney injury (serum creatinine 128 mmol/L, serum sodium 165 meq/L, serum potassium 5 meq/L) which was treated with antibiotics and supportive care. The hydronephrosis was managed with a vesicostomy to relieve ureteric obstruction. The infant was subsequently readmitted at the age of 1 month with complaints of loose stools and severe dehydration. On admission he was found to be tachypneic with a tachycardia, feeble pulse, sunken eyes and reduced urine output. Investigations were suggestive of severe metabolic acidosis, severe hyperkalaemia (serum potassium 9 meq/L) and azotaemia (serum creatinine 255 mmol/L). He was treated with peritoneal dialysis for 48 h and given supportive care. A urinary infection with Klebsiella species was found and treated with appropriate antibiotics. He was subsequently discharged 7 days later with prolonged antibiotic prophylaxis against urinary infection. An urologist opinion was sought and reconstructive surgery was planned but unfortunately the infant did not return. OPEN IN VIEWER

Discussion

The anomaly develops because of failure of development of genital tubercle into the phallus with the absence of all three components, namely both corpora cavernosa and corpus spongiosum. Karyotype is typically of male with XY chromosomes. The scrotum is usually well developed.^1,2 The testes usually function normally with normal testosterone production in response to human chorionic gonadotropin stimulation. Usually a urethral opening is near the anal verge (postsphincteric) under a skin tag or less commonly in the rectum (presphincteric). ³

The diagnosis of this abnormality includes: complete absence of corpora cavernosa and corpus spongiosum and opening of the urethra in perineum near the anus or into the rectum. The differential diagnosis includes concealed penis, rudimentary penis, micropenis, male pseudo-hermaphroditism and intrauterine amputation of the penis. ^4,5 Other congenital anomalies including cryptorchidism, renal agenesis or dysplasia; musculoskeletal and cardiopulmonary anomalies are usually seen in these patients (>50% cases); hence a full evaluation of the patient for internal anomalies is mandatory. The basic investigations required are karyotyping, measure of 17-hydroxy progesterone, serum testosterone and serum dihydro-testosterone levels, an abdominal ultrasound scan to rule out female internal organs and associated other genitourinary malformations, and finally a scrotal ultrasound to confirm the presence of testes. ²

Treating aphallia presents many challenges. A team approach, preferably including paediatric surgeon, urologist, geneticist, endocrinologist, paediatrician and mental health experts, is required. ⁶ The treatment is a multi-staged approach and usually consists of assignment of female gender to the infant. Bilateral orchiectomy, urethral perineal transposition and feminising genitoplasty are performed in the newborn period prior to the postnatal testosterone surge.^7,8 Vaginoplasty is achieved at an older age. Hormonal therapy with oestrogens forms an important part of the management and is started at the time of puberty to produce secondary sexual characteristics and is continued throughout life. ⁹

As the majority of parents in Indian families wish for a male child, it is often difficult for them to accept a female gender reassignment for their child and hence extensive counselling is necessary. Female gender reassignment is technically easier, resulting in a normally functional sexual life, whereas male assignment has a high rate of failure, mainly because of erectile dysfunction in later life. ¹⁰

So far 80 cases have been reported in the literature. The first was published by the French surgeon Barthelemy Saviard in 1701. ² The age at which this anomaly comes to medical attention ranges from birth to 45 years. Lack of awareness about the condition and treatment options lead to delay in reporting and seeking treatment. ¹⁰ Mirshemirani et al. from Iran reported a series of eight cases, of which six were treated surgically. The authors recommended feminising operations in newborns or infants, but in older patients, regarding the child's psychology, they advised performing masculinising procedures after parental counselling. ¹¹ This policy is followed by Kane et al. ¹² Evans et al. described two groups of penile agenesis, the first being associated with renal aplasia (16%), dysplasia or other caudal anomalies, and a second (72%) with low mortality and fewer additional anomalies. ¹³

Conclusion

Aphallia is a very rare congenital anomaly but some treatment options are available. Early recognition and appropriate parenteral counselling can help the family in reducing psychosocial problems. A team approach is ideal. Feminising procedures are recommended when presentation is at the newborn or infant stage, with attention to operations needed before the postnatal testosterone surge. However, in older children or adults, a masculine habitus is probably too late effectively to alter, and masculinising procedures are advocated.