PMC9732716_01
Patient's pedigree. Proband (II-1) and two subsequent aborted products II-2 and II-3, both with abnormal genitalia seen during prenatal ultrasound and both with 46, XY karyotypes (karyotypes not shown).
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F1
A Chinese family with an X-linked recessive form of 46, XY disorders of sex development (DSD) was admitted to the Clinic of the Second Hospital of Hebei Medical University (Shijiazhuang, China; Figure 1). The proband's mother later had two pregnancies (Figure 1II2II3), and the fetus was diagnosed with AIS by amniocentesis and choriocentesis at 20 and 16 weeks of pregnancy, respectively.
Patient's female genitalia showing bilateral subcutaneous masses indicated by white arrows.
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F2
The bilateral labia majora might touch a bump of approximately 3 x 2 x 1 cm3 in size, which was soft and could be pushed (Figure 2).
Ultrasound of the bilateral subcutaneous masses in the genital area consistent with testes.
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F3
At the age of 9 years, ultrasound revealed a missing uterus with a subcutaneous mass on both sides of the labia majora resembling an echo of the gonads (Figure 3).
Karyotype of 46, XY in v (9), (p11q13).
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F4
Karyotype: 46 XY, V (9), (p11q13) (Figure 4).
(A) It can be seen that the subcutaneous elliptical soft tissue of the bilateral labia majora is like a gonad, and the section is fish-like. (B) Pathology: testicular tissue and vas deferens on the left and testicular tissue on the right (magnification, x2010).
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F5
Bilateral gonadectomy was performed (Figure 5A). Pathology confirmed that the mass was in the testicular tissue (Figure 5B).