Patients (P) | First Age of consultation | morphotype | External genitalia (OGE) | Abdomino-pelvic echography |
P1 | 2 years | ………………………. | OGE male type, no palpated testis | ……………………….. |
P2 | 67 days | Absence of craniofacial dysmorphia, abdomen slightly increased in volume, presence of umbilical hernia. | OGE: genital tubercle penis clitoris. genital lip-like bumps, presence of a small orifice (urinate) | No pelvic testicles or inguinal canals. No uterus found. No abnormalities in the abdomen |
P3 | 20 years | mammary development, flexible abdomen without palpated masses, pilosity+++ | OGE: clitoral hypertrophy, palpated 2 masses (one at the pubic level on the right and one at the inguinal level on the left), presence of 2 orifices | Absence of female internal genitalia, testis presence |
P4 | 17years | morphotype android, thorax: mammary development stage S4 of Tanner absent axillary pilosity, pubic pilosity stage P2 of Tanner, Flexible abdomen without palpated masses. | OGE: female type with palpated 2 masses in symmetrical bilateral pubis, vaginal slit with small clitoris | ultrasound appearance in favor of a feminizing testis syndrome with two ectopic testicles in inguinal position |
P5 | 12 days | ………………………. | clitoral hypertrophy, urethral meatus, vagina in place and even labia majora | Left uterus and ovary visualized normal size and echostructure. Visualization of a right testicle in the inguinal position |