Pharmacological female pseudohermaphroditism

Female pseudohermaphroditism is a condition in which the chromosomes are 46,XX and the internal genitalia (ovaries, uterus, cervix, vagina, etc.) are completely or partially present, but the external genitalia show a partial or complete masculine tendency. In severe cases, the vulva resembles a man’s appearance, the labial folds fuse sufficiently to conceal the vagina from the outside, or even completely inhibit its formation, forming urethras of different lengths or along the entire length of the “penis”. The main causes of the disease are: 1) congenital adrenal cortical hyperplasia; 2) tumors; 3) exogenous androgenic effects. Pharmacological female pseudohermaphroditism is often caused by the use of various synthetic progestogenic or androgenic drugs during pregnancy, which affect the development of the external genitalia of the patient during the period of embryonic genital formation (i.e., 7-10 weeks of gestation), resulting in varying degrees of external genital abnormalities from mild clitoral hypertrophy to high masculinity. Most commonly, multiple cases occur in clusters in the same area. The families of the patients are influenced by the traditional concept of “raising children to prevent old age”, and because of the local rumor that taking some magical “fetus-transferring drug” can guarantee the birth of a son, pregnant women take different doses of “fetus-transferring drug” (mostly androgenic) after pregnancy. The “fetus-transferring drugs” (mostly androgenic drugs) are taken in varying doses after pregnancy. Generally, when the child is born with male external genitalia, the family often believes that the “fetus reincarnation medicine” is very effective, and the child’s gender is always male when he is young. However, when the child reaches puberty, he finds that his penis does not increase in size and no testicles are visible in his scrotum, and he comes to the hospital with periodic “urethral” bleeding. Examination revealed that the breasts had varying degrees of development and the external genitalia: the “penis” (actually an enlarged clitoris) was short, about 1-2 cm long, with fused labia and no testicular tissue inside. Ultrasound showed normal uterine adnexa and a vagina of variable length. The diagnosis: drug-related female pseudohermaphroditism. The degree of malformation in the development of the external genitalia of the child is often related to the period, dose, duration and type of medication administered during pregnancy. In early pregnancy, when the fetal external genitalia are in the process of differentiation and formation, the urogenital nodules and urethral folds may develop into a penis due to the influence of exogenous androgens coming via the placenta, and the genital bulges fuse to varying degrees. Clitoral enlargement is related to the duration of drug administration. The fusion of the genital bulge is related to the period of initiation of drug use. The degree of external genital anomalies is divided into 5 types: a: only clitoral hypertrophy is present; b-e: not only is there varying degrees of clitoral hypertrophy, the clitoris resembles a penis, and the urethra and vagina open to the urogenital sinus. Patients with female pseudohermaphroditism are generally most commonly seen with types b-d. The characteristic manifestations are: 1) the labia majora are completely or mostly fused, most of them resemble male vulva without scrotum, and the urethra and vaginal opening are combined into one opening for the urogenital sinus; 2) the clitoris is enlarged and upwardly displaced to different degrees; 3) the location of the urogenital sinus opening varies according to the degree of hormonal application and can exist in the perineum and the ventral side of the clitoris; 4) the labia minora are absent or small in development and are located next to the clitoris similar to the male penis prepuce. Schematic diagram of the classification of gender anomalies: u. urethra v. vagina s. urogenital sinus Therefore, in order to avoid such gender anomalies, synthetic progestin-like or androgenic drugs should be avoided during pregnancy. In newborns, the possibility of female pseudohermaphroditism and congenital hypospadias should be highly suspected when male or female cannot be accurately determined from the vulva. For the external genitalia plastic surgery, different surgical methods can be chosen according to the different conditions of vulvar development, such as clitoral reduction, labial molding and urethroplasty in the early stage to avoid excessive impact on the child’s psychology, and vaginoplasty after sexual maturity. Vaginoplasty can be performed after sexual maturity.