Follow-up and Prevalence of Precocious Puberty in Children with Classical Congenital Adrenal Hyperplasia diagnosed by Neonatal Screening

Veronica Gonzalez; Andrea Reinoso; Laura Vitale; Analia Morin; Victoria Fasano; Andrea Tournier; Viviana Balbi

Introduction: In children with classical congenital adrenal hyperplasia(CCAH) linear growth allows monitoring metabolic control. Precocious puberty could compromise their growth. There are few studies in patients with CCAH diagnosed by neonatal screening(NS) about this subject.

Aims: To analyze linear growth and precocious puberty in children with CCAH detected by NS.

Method: Thirty-two patients(F:15,M:17) with CCAH diagnosed by extracted 17OHP and molecular analysis were included. They were evaluated at start of treatment, 12 months of age, and then annually. Twenty one (F:9;M:12) of them started puberty and seven reached final height.We analyzed chronological age(CA) at start of treatment(CAST), z-height, z-BMI, hydrocortisone dose (HCd), bone age (BA) by Greulich and Pyle. We calculated ΔBA at start of puberty and one year previous; ΔBA-CA at start of puberty.Final height was compared with mid parental height (MPH).Statistical analysis:Anova test-Spearman correlation.

Results: Median CAST was 18(10;22)days.

	Start	1st year	2nd year	3rd year	4th year	5th year
Mean height SDS	-0,9±1,5	-1,6±1,67	-1,15±1,27	0,71±1,13	0,47±1,23	0,11±1,28
Mean BMI SDS	-1,46±1,21	0,67±1,42	0,68±0,91	0,89±0,96	0,97±1,23	1,33±1,4
HCd (mg/m2/day)	36 (32,8;43,55)	17,94 (16,12;19,52)	16 (14,44;19,2)	15,13 (13;19,91)	14,52 (11,83;16,83)	14 (10,79;18,09)
Mean BA SDS		0,87±0,33	1,89±0,85	2,59±1,03	3,88±1,33	5,36±2,43

No significant differences were found between variables analyzed by sex.Negative correlation was found between HCd and height(r=-0.27,P<0.0001).During follow-up, 21 patients started puberty, 9 boys and 4 girls at 11±0.9 and 9.5±0.21years, respectively.Final height in seven of them (F:2;M:5) was -1,17±0,6 SDS, -0.75±0.79 SDS below MPH. Six boys and five girls (34%) presented precocious puberty at 6.4±1.85 and 6.72±0.35years, respectively. ΔBA at start of puberty and one year previous was +3,05 years in boys and +1,8 years in girls. ΔBA-CA at start of puberty was +4.4years in boys and +3.5years in girls. They are in treatment with GnRH analogue and haven't reached final height yet.

Conclusions: All patients showed normal BA up to the age of 5 years, but later on, BA progressed rapidly in patients who developed Precocious Puberty.Final height was normal, but slightly lower than mid parental height in children with normal puberty.In spite of early diagnosis in this group of patients, precocious puberty was frequent, suggesting that other factors besides compliance are important. Other biomarkers of good metabolic control and treatments are needed to improve outcome.

ESPE Abstracts

P1-8