Growth from Birth to Adult Height in Patients with Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: A Collaborative Study

María Clemente; Sandino María Teresa; Arancha Escribano; Sara Berrade; Ariadna Campos; Diego Yeste

Objective: To evaluate growth in patients with classical CAH.

Patients and methods: Retrospective, longitudinal and multicentric study of patients with classical CAH due to 21-hydroxylase deficiency who had achieved adult height(AH).

Excluded: boys with simple virilising forms(SV)>1-year at diagnosis. Normative Control Group:Millennials Longitudinal Growth Study(2018). According to age at pubertal growth spurt (PGS)onset, patients were considered:very-early, early, intermediate, late and very-late maturers. PGS was considered normal if height Z-Score (HZS) at PGS-onset was similar (±0.5) to AH Z-Score.

Results: 50 patients(37 females); 41 salt-wasting. During the first year of life a decrease in height SDS was observed. Three groups of patients were identified according to their growth pattern from the first year: Group1:Regained growth until PGS onset, normal PGS, AH Z-Score>-2 and AH Z-Score-mean parental height(MPH) Z-Score>-1. Group 2: Non-regained prepubertal growth and normal PGS: HZS(PGSonset–3 years)< 0.5. Group 3: Accelerated prepubertal growth with disrupted PGS: HZS(PGS onset-3years)>1. All presented advanced bone age(BA) related to chronological age(>1year). Six patients were non-classifiable.

Table 1: HZS at different time-points.
	NN	1-year	3-years	7-years	PGS-onset	2nd year of PGS	AH	AH-MPH
Group 1 n=19	0,36±0,79	-1.77±1.0	-0.99±0.94	-0.50±0.98	-0.44±0.98	-0.32±0.90	-0.53±0.75	-0.07±1.02
Group 2 n=11	0,10±0,59	-2.11±1.51	-2.26±0.79*	-1.91±0.70*	-1.81±0.71*	-1.68±0.62*	-1.67±0.42*	-1.04±1.19*
Group 3 n=14	0,23±0,81	-1.90±1.70	-1.43±0.96	-0.25±1.06	0.25±1.06	-0.34±1.35	-2.06±1.01*	-1.39±0.85*
All sample n=50	0.24±0.77 (-1.46,2.8)	-1.84±1.34 (0.57,-6)	-1.40±1.01 (2.22,-3.45)	-0.65±1.15 (1.92,-3.19)	-0.53±1.20 (1.87,-2.90)	-0.64±1.12 (1,69,-3.89)	-1.31±1.07 (1.11,-4.14)	-0.68±1.19 (2.31,-3.37)
Hidrocortisone (mg/m2/day) n=39		21.1±5.1 (37.7,13.5)	18.1±4.9 (30.8,7.4)	19.06±3.7 (26.3,10.6)	16.7±4.6 (33,7.6)	15.9±4.3 (25,6.6)
Mean±SD;(max, min).*P<0.05 vs group1 AH was 156.5±5.3 cm (168.5-139.1)in women and 168.6±7.4 cm (185.1-159.0) in men. AH Z-Score: non-statistically different in patients with and without salt wasting forms. Significantly lower in very-early maturers(-1.90±0,60) vs intermediate(-0,79±0,92) and very-late maturers(-1,16±0,40). Testosterone and androstenedione values were higher in Group3 vs Group1 at 7-years and at PGS-onset. No correlation was observed between hydrocortisone doses and HZS.

Conclusions: • Globally, loss of HZS were observed during the first year of life with partial recovery until PGS-onset • Auxological evaluation is a useful tool for monitoring disease management • The observed growth pattern heterogeneity is partially explained by hydrocortisone doses and biochemical control.

ESPE Abstracts

P1-15