2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Aphallia: A Complex Case of a Rare Anomaly

Pdf Summary

Aphallia is an extremely rare disorder characterized by the absence of a phallus and an ectopic urethral opening. It can occur in both males and females, although it is less common in females. The disorder is likely caused by the failed development of the genital tubercle or a defect in cloacal differentiation. Most cases have a male karyotype and a normal endocrine evaluation. Incidence is estimated at 1 in 10-30 million births, with over 50% of cases having associated malformations. <br /><br />The case described in the article involves a baby born at 33+1 weeks via c-section due to maternal HELLP syndrome. The sex of the baby could not be determined initially, but later examination revealed the absence of a phallus and a variant of imperforate anus with a urethrorectal fistula. The baby also had a number of other associated malformations, including a mild coarctation of the aorta, ASD, and PFO. Subsequent tests and imaging confirmed a male karyotype.<br /><br />The management of aphallia can be controversial and has evolved over time. Historically, feminizing genitoplasty was recommended, but this approach has led to a high rate of gender dysphoria. The current consensus is to care for individuals with a male karyotype as males until they are old enough to identify their gender. Surgical reconstruction, including phalloplasty and urethroplasty, is considered long-term management. <br /><br />The case highlights the need for a multidisciplinary approach and close monitoring for other associated anomalies, particularly in the heart and kidneys. Studies have shown that individuals raised as males have a higher likelihood of remaining males, while a significant portion of those raised as females have changed their gender or experienced gender dysphoria. More research is needed to better understand the cause of aphallia and refine management strategies.

Asset Subtitle

Presenting Author - Lauren B. Carter, MD, FACMG; Co-Author - Caitlin Bozick, MSGC, CGC;

Meta Tag

Clinical History

Congenital Anomaly

Genitourinary malformations

Phenotype

Co-Author Caitlin Bozick, MSGC, CGC

Presenting Author Lauren B. Carter, MD, FACMG

Keywords

Aphallia

absence of phallus

ectopic urethral opening

genital tubercle

cloacal differentiation

male karyotype

associated malformations

feminizing genitoplasty

surgical reconstruction

gender dysphoria