Short stature due to late-onset congenital adrenal hyperplasia
P. Rodrigues1,2, S. Souto1,2, S. Costa1, R. Moura1, D. Alves1, P. Freitas1,2, C. Correia1,2, C. Costa1,2 & M. Fontoura1,2
Introduction: Precocious pubarche is defined as pubic hair onset before age eight in girls and age nine in boys. In 520% of cases the cause is late-onset congenital adrenal hyperplasia (LO-CAH), which is due mainly to non-classic 21-hydroxylase deficiency. If not promptly diagnosed, it can lead to accelerated bone maturation, short final height, and in adulthood to severe acne, hirsutism and infertility.
Case report: Adolescent male, 15 years-old, had a first Pediatric Endocrinology consultation in May 2011 due to short stature. No complications reported during pregnancy and neonatal period. Pubarche occurred at age 7. No information about age of onset of testes and penis development. No relevant family history. Family estimated target height 168 cm (10th25th percentiles). On physical examination with weight 69 kg (90th percentil), height 159 cm (3rd10th percentiles) and Tanner stage 5 for genital and pubic hair development. Stature growth chart with few records in the last years but crossing four percentiles curves from age 12 to 15. Laboratory assays showed an increase of baseline 17-hydroxyprogesterone (7.57 ng/ml) and Δ4-androstenedione (4.71 ng/ml; n: 0.603.10). Measurements of free testosterone, dehydroepiandrosterone sulfate, gonadotropins, IGF1, IGFBP-3 and thyroid function were normal for age group. LO-CAH diagnosis was confirmed by ACTH stimulation test (17-hydroxyprogesterone increased to 27.7 ng/ml 60 min after). Genetic testing detected the mutation p.Val281Leu in homozygosity in gene CYP21A2. Radiography of non-dominant hand and wrist revealed a bone age of 17 years. Testicular ultrasound showed no adrenal rest tumors.
Conclusions: In this clinical case, earlier onset of pubarche was not identified and LO-CAH was not promptly diagnosed, leading to accelerated bone maturation and subsequent committed final height. Early diagnosis of LO-CAH is fundamental to control signs and symptoms related to androgen excess.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector