Hypopigmented Nipples and Hypospadias – a Clue to Pathogenesis?

In addition to the comments associated with each illustration, this patient provides a cogent example of the potential importance of multiple variants / dysmorphic signs concurrent with obvious structural malformations. Hypospadias is among the most common malformations in males and often its cause is unknown. The experienced, clever and intelligent clinician who has “open eyes” may not only contribute toward a better diagnosis but also to a better understanding of the pathogenesis and etiology of particular patients.

Why are these nipples pale (hypopigmented)? – Is this sign a signal of an association with the causes of the concurrent severe hypospadias? Pigmentation of the nipples is quite variable but clearly reflects hormonal impacts. Do you know of any investigations of nipple characteristics and hypospadias? There are some studies in animals showing such an association. In humans an association with extra nipples (polythelia) and hypospadias has been documented. Endocrine disruptors may also be a cause for both. If you search the medical literature you will find much of interest that may apply directly to your patient.