Veronica I. Alaniz

MAP3K1‐related gonadal dysgenesis: Six new cases and review of the literature

Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex‐determining genes. MAP3K1 encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common genes responsible for 46,XY DSD presenting as complete or partial gonadal dysgenesis. Clinical assessment, endocrine evaluation, and genetic analysis were performed in six individuals from four unrelated families with 46,XY DSD. All six individuals were found to have likely pathogenic MAP3K1 variants. Three of these individuals presented with complete gonadal dysgenesis, characterized by bilateral streak gonads with typical internal and external female genitalia, while the other three presented with partial gonadal dysgenesis, characterized by incomplete testicular development, resulting in clitoral hypertrophy with otherwise typical female external genitalia. Testing for MAP3K1 variants should be considered in patients with 46,XY complete or partial gonadal dysgenesis, particularly in families with multiple members affected with 46,XY DSD. Identification of a MAP3K1 variant should prompt an evaluation for DSD in female siblings of the proband.

Galactocele in a Prepubertal Girl

BACKGROUND Galactoceles have been previously described as an unusual cause of benign breast enlargement in male infants and children. CASE A 3-year-old prepubertal girl presented with a right-sided breast mass and was found to have a 4.4-cm hypoechoic cyst on ultrasound imaging with otherwise normal endocrine studies including prolactin levels. She underwent cyst aspiration which revealed milky fluid. Fat globules were identified with microscopic examination, confirming the diagnosis of a galactocele. Aspiration resolved the mass. SUMMARY AND CONCLUSION The etiology of galactoceles in nonlactating women is poorly understood. Traditionally, treatment of these benign cysts in male children has been surgical excision. In prepubertal girls, conservative management by surveillance or needle aspiration is warranted to prevent damage to developing breast tissue.

Transverse Vaginal Septum

Transverse vaginal septa are a rare type of mullerian anomaly that results from failed fusion or canalization of the vaginal plate and the caudal end of the mullerian ducts. Septa are most commonly imperforate and manifest as primary amenorrhea, abdominal pain, and hematocolpos in adolescence. Perforate septa have a more variable presentation, usually associated with the foreshortened vagina and can present in adolescence or young adulthood. Proper diagnosis is made with clinical exam and imaging, usually Magnetic Resonance Imaging (MRI). Surgical management is highly dependent on the thickness and location of the septum and includes vaginal and abdominoperineal procedures. The patients’ age, developmental level, and ability to perform postoperative dilation should be considered when exploring surgical options, since prolonged dilation is often indicated in the postoperative period. Long-term complications include vaginal stenosis and re-obstruction, which may require repeat surgery. The risk of endometriosis increases with imperforate septa that are located higher in the vagina. There is limited data available on reproductive outcomes, but vaginal births have been reported.