ESPE Abstracts

Background: Patients with non-classical congenital adrenal hyperplasia (NCCAH) generally show a normal growth pattern and reach to their target height. However, short final height can occasionally occur. Here, we present a patient with NCCAH who reach his target height with additional therapy.

Case Report: A 10.5-year-old boy was brought in due to pubic hair growth that had started before 6 months. He was born at 30 weeks of gestation via cesarean section, weighing 1150 grams(-1.4SDS) and 33 cm in length(-2.8SDS). At presentation, his height was 143.5 cm(0.3SDS), and BMI was 15.6 kg/m²(-1SDS). His testicular volume (TV) was 2/2 ml, penile length was 4.5cm, and pubic hair was Tanner stage 2. Bone age(BA) was 13.5 years, and his predicted adult height (PAH) of 159.1 cm was significantly below the target height (TH) of 176.5 cm(-0.01SDS). Laboratory tests revealed the following values: 17-OH progesterone at 17 ng/ml, androstenedione at 3.74 ng/ml, testosterone at 0.36 ng/ml. Basal cortisol level was in normal ranges, but peak cortisole response to ACTH stimulation test was low(11.3mcg/dl)). Genetic testing identified compound heterozygous variants in the CYP21A2 gene[exon 4-5 conversion (paternal) and p.V282L (maternal)], confirming the diagnosis of NCCAH. Hydrocortisone(10 mg/m²/day)was initiated. At the 1-year follow-up, his height was 147.7cm (0.03SDS), pubertal stage was Tanner Pk3, and TV was 4/5 ml. Due to his low PAH and the early onset and rapid progression of puberty, GnRHa (triptorelin 3.75 mg/28 days, IM), aromatase inhibitor (anastrozole, 0.5 mg/day), and growth hormone (GH) therapy (0.026 mg/kg/day, SC) were started. At age 12.8 years, his bone age was 13.5 years(0.3 SDS). GnRHa therapy was discontinued at age 13.7 years. Due to high adrenal androgens, cyproterone acetate(CPA) was initiated. CPA therapy was discontinued at 15.1 years, with a bone age of 14 years(-0.3SDS). GH therapy was discontinued at age 15.8 years. At 16.7 years, his bone age was 16 years(-1.5SDS), and anastrozole therapy was stopped. No side effects were observed. By the end of the treatment, he reached a final adult height of 175.6cm. In conclusion; some NCCAH cases, early puberty and rapid bone age advancement may occur, potentially resulting in a shorter adult height if not treated. This case highlights the importance of close monitoring and individualized treatment strategies in the management of NCCAH patients to achieve better growth outcomes.