Answer: Hypospadias (Option A)
In a 3-year-old boy presenting with unilateral cryptorchidism and absent ipsilateral scrotum, hypospadias is the associated condition most directly related to sexual development and disorders of sex differentiation. 1
Why Hypospadias is the Correct Answer
When cryptorchidism co-exists with other genital anomalies—particularly absent scrotum, hypospadias, or micropenis—clinicians must evaluate for disorders of sex development (DSD), including the possibility of life-threatening congenital adrenal hyperplasia in a genetic female. 1 This clinical presentation demands immediate attention because:
The combination of unilateral cryptorchidism with phallic anomalies such as hypospadias indicates aberrant androgen signaling or potential disorders of sex development requiring additional evaluation. 1
Acquired cryptorchidism is more common in boys with a history of proximal hypospadias, suggesting a common mechanism—such as aberrant androgen signaling—may predispose to both anomalies. 1
In patients with nonpalpable undescended testis and hypospadias, the incidence of intersex conditions reaches 50%, compared to only 15% when the testis is palpable. 2 The severity of hypospadias correlates strongly with intersex states: posterior hypospadias carries a 64% intersex rate versus only 8% for anterior hypospadias. 2
Why the Other Options Are Incorrect
Inguinal Hernia (Option B)
While inguinal hernia is the most common associated anomaly with isolated cryptorchidism 1, 3, 4, it is not related to sexual development or disorders of sex differentiation. 1 The AUA guidelines identify inguinal hernia as a main treatment indication for cryptorchidism alongside fertility and cancer risks 5, 1, but this represents a mechanical complication of the patent processus vaginalis rather than a marker of endocrine or sexual development pathology.
Pyloric Stenosis (Option C)
Pyloric stenosis has not been shown to be associated with cryptorchidism; the two conditions arise from distinct embryologic pathways. 1
Congenital Heart Disease (Option D)
Cryptorchidism does not increase the risk of congenital heart defects according to current urological guidelines. 1 There is no evidence linking isolated cryptorchidism with congenital heart defects. 1
Critical Clinical Implications
The key distinguishing feature in this case is the absent ipsilateral scrotum, which elevates this beyond simple isolated cryptorchidism. This finding, combined with unilateral undescended testis, should trigger evaluation for:
- Disorders of sex development (DSD) 1
- Testicular dysgenesis syndrome (TDS), which may underlie cryptorchidism, hypospadias, testicular cancer risk, and poor semen quality 6
- Congenital adrenal hyperplasia in a genetic female (46,XX), which can be life-threatening if missed 7
The absence of normal scrotal development on the affected side combined with cryptorchidism strongly suggests incomplete masculinization, making hypospadias the most relevant associated finding related to sexual development.