ESPE2023 Rapid Free Communications Adrenals and HPA Axis (6 abstracts)
Clinical and Genetic Characteristics of 42 Chinese Paediatric Patients with X-Linked Adrenal Hypoplasia Congenita
Wanqi Zheng , Ying Duan , Yu Xia , Lili Liang , Zhuwen Gong , Ruifang Wang , Deyun Lu , Kaichuang Zhang , Yi Yang , Yuning Sun , Huiwen Zhang , Lianshu Han , Zizhen Gong , Bing Xiao & Wenjuan Qiu
Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China
Background: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), with limited clinical and genetic characterization.
Methods: The clinical, biochemical, genetic, therapeutic, and follow-up data of 42 patients diagnosed with X-linked AHC were retrospectively analysed.
Results: Hyperpigmentation (38/42, 90%), vomiting/diarrhoea (20/42, 48%), failure to thrive (13/42, 31%), and convulsions (7/42, 17%) were the most common symptoms of X-linked AHC at onset. Increased adrenocorticotropic hormone (ACTH) (42/42, 100%) and decreased cortisol (37/42, 88%) were the most common laboratory findings, followed by hyponatremia (32/42, 76%) and hyperkalaemia (29/42, 69%). Thirty-one patients presented with PAI within the first year of life, and 11 presented after three years of age. Three of the thirteen patients over the age of 14 exhibited spontaneous pubertal development, and ten of them experienced delayed puberty due to HH. Six patients receiving human chorionic gonadotropin (hCG) therapy exhibited a slight increase in testicular size and had rising testosterone levels (both P <0.05). The testicular volumes of the three patients with pulsatile gonadotropin-releasing hormone (GnRH) therapy were larger than those of the six patients undergoing hCG therapy (P <0.05), and they also exhibited some growth in terms of luteinizing hormone (LH), follicle-stimulating hormone (FSH), and testosterone. Of the 42 patients, three had an Xp21 deletion, and 39 had an isolated DAX1 defect. The most common variant, which may be associated with early onset age, was the entire DAX1 deletion (10/42, 23.8%). Fourteen novel DAX1 variants were identified.
Conclusions: This study expands the clinical and genetic spectra of X-linked AHC. Patients with X-linked AHC show a bimodal distribution of the age of onset, with approximately 70% presenting within the first year of life. Compared to hCG therapy, pulsatile GnRH appears to be more effective. The combination of clinical features and molecular tests provides information for an accurate diagnosis.
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Abstracts
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more