Van Wyk-Grumbach Syndrome with bilateral inguinal hernia: A case report.

Abstract

Introduction: Van Wyk-Grumbach Syndrome (VWGS) is a rare pediatric endocrinological disorder characterized by hypothyroidism, delayed bone age, enlarged multicystic ovaries, and precocious puberty. It results from prolonged hypothyroidism, affecting the hypothalamic-pituitary-gonadal axis. This report describes a 7-year-old girl presenting with vaginal bleeding and abdominal pain, leading to a diagnosis of VWGS with bilateral inguinal hernia and requiring surgical intervention.

Case presentation: A 7-year-old girl presented with a single episode of vaginal bleeding, abdominal pain, and growth retardation. Clinical examination revealed delayed growth parameters, Tanner stage II breast development, and bilateral inguinal hernias. Abdominal examination identified a cystic mass in the right iliac fossa. Laboratory tests showed hypothyroidism. Imaging revealed a multiloculated right ovarian cyst. The patient underwent exploratory laparotomy with right salpingo-oophorectomy, marsupialization of the left ovarian cyst, and bilateral hernia repair. Histopathology confirmed ovarian hemorrhagic infarction. Postoperatively, she was started on levothyroxine therapy, leading to symptom resolution, height improvement, and cyst regression during follow-up.

Clinical discussion: VWGS manifests due to thyroid dysfunction-induced gonadal stimulation, causing ovarian enlargement and precocious puberty. Prompt initiation of levothyroxine can prevent complications and avoid surgical intervention. The bilateral hernias in this case represent a unique presentation, potentially linked to hypothyroidism-induced muscle weakness.

Conclusion: This case underscores the necessity of routine thyroid evaluation in pediatric patients with ovarian cysts and precocious puberty. Early diagnosis and levothyroxine therapy can resolve symptoms and prevent invasive interventions, emphasizing the critical role of endocrinological assessment.