ESPE Abstracts

Introduction: CAH (congenital adrenal hyperplasia) is the most common cause of ambiguous genitalia among girls. 21 Hydroxylase deficiency is the most common type of CAH. If the CAH girls have early intervention and they have started early treatment then they will achieve normal puberty. IF CAH girls have started treatment later in the life then they will present either with precocious puberty or delayed puberty.

Methodology: We have collected data from 27 girls who are diagnosed as classical CAH in our Endo OPD. Inclusion Criteria includes All girls who have ambiguous genitalia and diagnosed as 21-hydroxylase deficiency and are 46XX, these girls are 15 years or older. Exclusion Criteria Includes non classical CAH, CAH girls reared as boys,46XY. Detail history, physical examination, lab investigation and medication record were noted and verified from the parents as well.A questionnaire was made which includes age of presentation in endo clinic, age of start of treatment, compliance, age of pubic hairs appearance, breast development and menarche and how many surgeries done so far. By using SPSS calculator we will get results.

Results: Out of 27, only 5 girls (18%) have pseudo precocious puberty with the pubic hairs appear earlier but they have achieved menarche around 14 years and had regular cycles. Among these 5 girls, 4 were presented very late in endo clinic and treatment started after 1st year of life and 1 girl had very poor compliance for medicines. Remaining 23 girls have good compliance to medicines and they achieve puberty at appropriate ages and have regular menstrual cycle and breast development as well. All have undergone 1 or 2 surgeries as well.

Discussion: If CAH girls have early intervention and regular follow ups, they will have normal puberty and have regular menstrual cycles.