Journal of pediatric endocrinology & metabolism : JPEM · 2025
Surgical treatment and somatostatin experience in growth hormone-secreting pituitary macroadenoma due to novel AIP mutation.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Karagöz Kıymet, Eken Emine Şeyma, Karacan Küçükali Gülin, Emrahoğlu Muhammed Erkan, Düzcan Kilimci Duygu, Keskin Melikşah, Kurnaz Erdal, Bala Keziban Aslı, Yeşil Şule, Yılmaz Şükriye, Sezer Abdullah, Savaş Erdeve Şenay
Аннотация
OBJECTIVES: Somatotropinomas are extremely rare in children and frequently associated with genetic causes. Among pituitary gigantism, approximately 30 % are attributed to the aryl hydrocarbon receptor-interacting protein (AIP) gene mutations, whereas other genetic causes are less common. These mutations cause more aggressive tumors that are challenging to control with a single intervention and often exhibit resistance to somatostatin analogs (SSAs). Our aim is to present a pediatric patient with a somatotropinoma due to a novel AIP variant who responded positively to SSA therapy following a single surgical intervention.
CASE PRESENTATION: A 15-year and 8-month-old male patient presented with complaints of excessive height and enlargement of the hands and feet over the past 2 years. Laboratory investigations revealed a random growth hormone level of 50 μg/L (normal range [NR]: 0.077-10.8) and insulin-like growth factor-1(IGF-1) level of 1,107 ng/mL (age-adjusted NR: 224-978/>+2 standardised deviation scores). Magnetic resonance imaging demonstrated a pituitary macroadenoma extending into the suprasellar region. A craniotomy was performed, and the majority of the tumor was resected. Due to the presence of residual tumor, SSA therapy (octreotide-LAR) was initiated. After 1 year of follow-up, IGF-1 levels returned to the normal range, and tumor growth was controlled. Genetic analysis identified a heterozygous frameshift novel variant (c.25delC, p.(Arg9Glyfs*9)) in the AIP gene.
CONCLUSIONS: Although AIP mutation-positive cases are typically resistant to SSAs, our patient carrying a novel AIP variant demonstrated a favorable response to SSA treatment.
CASE PRESENTATION: A 15-year and 8-month-old male patient presented with complaints of excessive height and enlargement of the hands and feet over the past 2 years. Laboratory investigations revealed a random growth hormone level of 50 μg/L (normal range [NR]: 0.077-10.8) and insulin-like growth factor-1(IGF-1) level of 1,107 ng/mL (age-adjusted NR: 224-978/>+2 standardised deviation scores). Magnetic resonance imaging demonstrated a pituitary macroadenoma extending into the suprasellar region. A craniotomy was performed, and the majority of the tumor was resected. Due to the presence of residual tumor, SSA therapy (octreotide-LAR) was initiated. After 1 year of follow-up, IGF-1 levels returned to the normal range, and tumor growth was controlled. Genetic analysis identified a heterozygous frameshift novel variant (c.25delC, p.(Arg9Glyfs*9)) in the AIP gene.
CONCLUSIONS: Although AIP mutation-positive cases are typically resistant to SSAs, our patient carrying a novel AIP variant demonstrated a favorable response to SSA treatment.