ESPE Abstracts

Background: In patients with SHOX deficiency, radiographic abnormalities can vary, with some cases showing no deformities or only mild deformities, particularly in young children, while Madelung deformity is the most commonly observed radiographic feature. Growth hormone (GH) therapy for individuals with SHOX deficiency has been available in Japan since June 2023. This report summarizes a case series of SHOX deficiency diagnosed at a single institution, with a...

Background: Adrenal tumour in childhood is relatively rare, and its clinical features are variable depending on hormonal profiles. Pigmented primary nodular adrenocortical disease (PPNAD) and adrenal carcinoma may present with clinical signs of precocious puberty due to increased adrenal androgen secretion in addition to glucocorticoids. [Case] 12-year-old boy. Obesity and short stature were noted on school health check-up a year ago. The endocrinological work...