A 50-year-old female with a past medical history of gastritis and marijuana abuse presents to the Emergency Department (ED) with epigastric abdominal pain for one day. The patient reports she was seen in the ED one month prior for similar symptoms and had an ultrasound of the gallbladder, which was negative. She was discharged home with prescriptions for Pepcid, Carafate, and Zofran. Once discharged home she did not experience any symptoms until the day prior to presenting again to the ED. The patient denies nausea, vomiting, back pain, dysuria, hematuria, subjective fevers, chills, diarrhea, vaginal bleeding, vaginal discharge, chest pain, or shortness of breath. Of note, the patient also reports intermittent bilateral inguinal discomfort, stating she believed she had inguinal hernias, which would become tender without exertion or any notable inciting factor.
Vitals: HR 82; T 97.1°F; BP 147/95; RR 20; O2 sat 100% on room air General: No acute distress Cardiovascular: Regular rate and rhythm; no murmur; bilateral upper extremity and lower extremity pulses palpable Gastrointestinal: Soft; generalized tenderness, predominantly epigastric; no abdominal masses Genitourinary: Pelvic exam deferred; normal external vaginal exam; bilateral inguinal masses, non-tender, no overlying cellulitis
White blood cell (WBC) count: 5.64 k Hemoglobin (Hgb): 10.4 g/dL Hematocrit (Hct): 33.0% Platelet count: 279 k Complete metabolic panel (CMP): Unremarkable Urine pregnancy test (UPT): Negative
DDX: Bilateral inguinal hernias, abscess, undescended testicles. The abnormal findings in this patient were consistent with undescended rudimentary testicles in a patient without a prior diagnosis of true hermaphroditism (an ovotesticular disorder of sex development [DSD]). Our patient was phenotypically a female, with developed breasts, vagina, uterus, and ovaries, although uterus and ovaries were noted to be diminutive on imaging. Our patient identified herself as a female of homosexual orientation. True hermaphroditism is characterized as the presence of seminiferous tubules and ovarian follicles in the same individual. Genitalia is usually ambiguous; however, patients may appear phenotypically male or female. Reproductive organ differentiation is a complex process involving multiple pathways and receptors, predominantly antimüllerian hormone (AMH). When testes differentiate, the secretion of AMH will lead to regression of müllerian structures, and lack of AMH will result in progression of female organ development (e.g., fallopian tubes, uterus, cervix, and upper vagina). The vast majority of patients with hermaphroditism will have a uterus or uterine horn, and most patients have breast development, ovulation, and menstruation.
Patients should be educated about the importance of close follow-up and the possible complications involved with this diagnosis. Although some patients may be asymptomatic and therefore undiagnosed, undescended testicles are at a slightly increased risk for gonadal tumors and may also suffer from testicular torsion. Patients may need to have a biopsy of undescended testes to confirm testicular tissue and be required to have surgical removal of testes.
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