IMPE2023 Poster Presentations Adrenals and HPA Axis (16 abstracts)
Cortisol response in Non-Classic Congenital Adrenal Hyperplasia
María Victoria Lobo de la Vega 1,2 , María Celeste Mattone 1,3 , Roxana Marino 1 , Juan Manuel Lazzati 1 , Verónica Zaidman 1 , Natalia Perez Garrido 1 , Melina Pelanda 1 , Viviana Balbi 4 , Pablo César Ramírez 1 , Alicia Belgorosky 1,3 , Marta Ciaccio 1 , Gabriela Guercio 1,3 & Mariana Costanzo 1
1Servicio de Endocrinología, Hospital de Pediatría Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina. 2Servicio de Endocrinología, Hospital del Niño Jesús, San Miguel de Tucumán, Argentina. 3Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina. 4Sala de Endocrinología y Crecimiento, Hospital Sor María Ludovica, La Plata, Argentina
Background: Non-classic forms of Congenital Adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency are usually associated with variable degrees of postnatal androgen excess but adequate cortisol and aldosterone production. However, few studies have evaluated cortisol response.
Aim: to describe the clinical, biochemical characteristics, and cortisol response to Corticotropin test in a cohort of patients with NCCAH studied in one single institution.
Patients and methods: We retrospectively reviewed the clinical records of patients with hyperandrogenic signs studied between 1987-2021. Corticotropin test (25UI corticotropin IM) was used as inclusion criteria. Twenty-five patients were classified as NCCAH confirmed by CYP21A2 genotype analysis (G1). For each patient, 2 hyperandrogenic subjects non-NCCAH were selected as controls, matched by age and sex (G2). Patients in G1 were subclassified into G1a (n:7) and G1b (n:18) based in the presence or absence of one severe CYP21A2 gene variant. A cut-off for cortisol peak of 18 ucg/dl (500 nmol/L) was used to define sufficient response.
Results: Median age was 8.63 years (range 3.92 -18.35), 84 % were females. No significant differences were found in the clinical findings among groups. Precocious pubarche was the most frequent hyperandrogenic complain (G1: 51.2%, G2: 41.9%). Height SD was significantly higher than mid parental-height SD (P<0.0001). Accelerated growth, tall stature, and acne, were present more frequently than noticed by the family (P<0.04). Mean bone age advance was 1.38 ys (SD 1.34) without differences among groups. Baseline serum 17OHP levels were higher in G1, without differences between genotypes (median 17OHP ng/ml, range; G1: 7.58, 3.16-32.00; G2: 1.36, 0.10-5.77; P<0.001). No differences were found in basal cortisol, ACTH, and SDHEA levels between groups. Mean cortisol peak was significantly lower in G1 (cortisol peak mg/dl mean ± SD; G1: 18.41± 6.56; G2: 24.85 ± 6.14; P<0.0001), without differences among genotypes. Insufficient cortisol response was more frequent in G1 (G1: 52%; G2:10%; P=0,0002). Cortisol peak correlate with baseline cortisol (Pearson 0,50, P<0,0001) and 17OHP (Spearman -0.25, P=0.03), but not with ACTH and SDHEA. ROC curve analysis in G1 showed that a serum basal cortisol > 13.2 mg/dl (364 nmol/L) assures sufficient cortisol response (specificity 100 %, P=0.002).
Conclusion: Inadequate cortisol response is not uncommon among NCCAH patients. Identification of poor responders is relevant to recommend stress dosing, especially when glucocorticoid treatment is not indicated. Basal cortisol greater than 13.2 mg/dl in NCCAH subjects can be assumed as indicative of a normal cortisol response.
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