ESPE Abstracts (2024) 98 P1-106

ESPE2024 Poster Category 1 Adrenals and HPA Axis 2 (8 abstracts)

When Should We Consider Congenital Adrenal Hyperplasia in Children with Premature Pubarche: Key Features for Differential Diagnosis

Sebla Güneş 1 , İbrahim Mert Erbaş 2 , Kübra Yüksek Acinikli 2 , Reyhan Deveci Sevim 1 , Ayhan Abaco 2 & Ahmet Anık 1


1Aydın Adnan Menderes University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Aydın, Turkey. 2Dokuz Eylul Unıversity, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, İzmir, Turkey


Introduction: Premature adrenarche (PA) is a benign clinical condition characterized by the early appearance of pubic and/or axillary hair. Non-classical form of congenital adrenal hyperplasia (CAH) should be ruled out in children with premature pubarche. This study aims to demonstrate the significance of clinical and laboratory data in differentiating between PA and CAH.

Materials and Methods: This study includes prepubertal patients (<8 years old females and <9 years old males) who were admitted to two collaborating pediatric endocrinology departments between 2015 and 2022 with complaints of pubic/axillary hair growth and/or body odor. Plasma 17-hydroxyprogesterone (17OHP) and dehydroepiandrosterone sulfate (DHEAS) levels were retrospectively assessed, along with left wrist X-ray. The patients' left wrist X-ray radiographs were reviewed retrospectively by three separate researchers to determine bone age (BA). Results are presented as either median (25–75 percentile) or mean ± standard deviation, depending on the normality of the distribution.

Results: The study includes a total of 162 patients, 131 of whom are female (80.9%). The median chronological age (CA) was 7.2 years (6.5–7.6), the median BA was 7.8 years (6.8–8.5), and the median BA/CA ratio was 1.1 (1.0–1.2). The appearance of pubic and/or axillary hair began at a median age of 6 years (6–7). The standard deviation scores (SDS) for weight, height, and body mass index were 1.1 ± 1.3, 1.0 (0.3–1.5), and 0.9 ± 1.2, respectively. Upon physical examination, 87% of the patients had pubic hair, and 46.3% had axillary hair. The levels of DHEAS and 17OHP were 100.6 (72.1–144.6) µg/dL and 0.8 (0.5–1.4) ng/mL, respectively. In 21 patients (13.0%), the 17-OHP level were higher than the cutoff value (2 ng/mL). Twelve patients (7.4%) underwent the adrenocorticotropic hormone (ACTH) stimulation test. Gender, anthropometric measures, BA/CA ratio, history of small for gestational age, serum lipid profile, HOMA-IR, and DHEAS levels were similar in patients with elevated or normal 17-OHP levels. The ACTH stimulation test or genetic analysis diagnosed CAH in five patients (3.1%). The BA/CA ratio in these patients was significantly higher than in those diagnosed with PA (P = 0.011). No significant differences were observed between the two groups in other laboratory test results.

Conclusion: Plasma 17OHP should be measured in children with premature pubarche and advanced bone age.

Volume 98

62nd Annual ESPE (ESPE 2024)

Liverpool, UK
16 Nov 2024 - 18 Nov 2024

European Society for Paediatric Endocrinology 

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