Evaluation of final heights in patients with congenital adrenal hyperplasia

Authors : Burçin Kurtipek, Melikşah Keskin, Elvan Bayramoglu, Zehra Aycan

Pages : 265-276

Doi:10.31362/patd.1366476

View : 48 | Download : 94

Publication Date : 2024-04-01

Article Type : Research Paper

Abstract :Purpose: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease that occurs as a result of a deficiency of any of the enzymes required for the synthesis of glucocorticoids, mineralocorticoids and sex steroids from cholesterol in the adrenal cortex. In this study, we have aimed both to evaluate the final heights in patients with CAH secondary to 21-hydroxylase and 11β- hydroxylase deficiency and also to investigate the factors affecting the final heights. Material and methods: The anthropometric, clinical, and laboratory findings of patients diagnosed with CAH in the Pediatric Endocrinology Clinic were evaluated retrospectively. Among patients who reached their final heights and adhered to their regular control visits, a total of 39 CAH patients without precocious puberty, and any additional disease diagnosed during their follow-up were included in the study. Results: Among cases with 21- hydroxylase deficiency, mean final heights of female, and male patients with classic simple virilizing CAH were 158.2±5.46 cm, and 168.8±11.67 cm, while in salt-wasting CAH the corresponding final heights were 152.2±5.94 cm, and 156.5±6.2 cm, respectively. In the group with non-classic CAH, mean final heights of female, and male patients were 155.9±7.59 cm, and 157 cm, respectively. The final height SD of all classic CAH cases was - 1.41±1.45, and it was calculated as -0.81±1.12 (-2.30-0.80) in cases with simple virilizing type classic CAH and -1.79±1.53 (-3.70-0.70) in cases with salt-wasting type classic CAH. In non-classic CAH cases, the final height SD was calculated as -1.65±1.69. When patients with salt-wasting CAH and simple virilizing CAH were compared in terms of final height SDs and genetically adjusted height SDs, the final heights of patients with simple virilizing CAH were significantly higher (p<0.05), and the final heights of cases with 11 β- hydroxylase deficiency were significantly shorter than all groups (p<0.05). In CAH, both hyperandrogenism resulting from inadequate treatment and high-dose glucocorticoid treatment may result in a comparatively shorter final height. For this reason, patients should be evaluated at regular intervals in terms of early recognition of CAH through CAH screening programs, administration of glucocorticoid therapy in appropriate doses (10-15 mg/m²/day), and metabolic control monitoring. Conclusion: In our study, the best average final height was found in the group using hydrocortisone dose of 10-15 mg/m²/day. We have revealed that when daily doses ranging between 5-10 mg/m² were used, androgens were not suppressed sufficiently and the epiphyses closed prematurely, and in cases where daily doses exceeding 15 mg/m² were administered, the final heights were relatively shorter due to the use of excess doses of glucocorticoids.
Keywords : Konjenital adrenal hiperplazi, final boy, 21 OH eksikliği, kortikosteroid tedavisi