Congenital Virilizing Adrenal Hyperplasia Without Acceleration of Growth or Bone Maturation

Abstract

The simple form of congenital virilizing adrenal hyperplasia was seen in three girls, aged 21 months to 42 months. These children appear unique because they exhibited very mild virilization of the external genitalia and did not manifest acceleration of bone maturation. Posterior fusion of the labia majora obscured the vaginal orifice, resulting in the appearance of a urogenital sinus formation ("pseudourogenital" sinus Physical examination at 22 months was remarkable in that the patient was a slim, healthy girl whose height was 83.8 cm (33 inches), the mean for her age (Fig 1). In¬ creased musculature, facial hair, and acne were not pres¬ ent. Axillary sweat and hair were absent. The clitoris was enlarged, measuring 2.5 cm in length and 1 cm in width. Posterior fusion of the labia majora obscured the vaginal orifice. Because of this abnormality, the examiners er¬ roneously diagnosed a urogenital sinus (Fig 2)

Early growth is not increased in untreated moderately severe 21‐hydroxylase deficiency

“…However, there are observations which indicate that early growth is not increased above normal in untreated moderate ("simple virilizing") and mild ("non-classical") forms of 210HD (1)(2)(3). With the advent of neonatal screening programs to detect even moderate and mild forms of 210HD, it has become important to define the natural course of 210HD before treatment.…”

Pubertal development among girls with classical congenital adrenal hyperplasia initiated on treatment at different ages

“…have described three untreated CAH girls, age ranging from 21 to 42 months. [15] The girl who was 42 months old had some amount of pubic hair growth, but no facial or axillary hair. The other two girls, 21 and 24 months had no virilization.…”