Van Wyk-Grumbach syndrome: The importance of thyroid function tests in a child presenting with multicystic ovaries

Abstract

Introduction: Van Wyk-Grumbach syndrome (VWGS) is a rare presentation of long-standing hypothyroidism, characterized by delayed bone age, enlarged bilateral multicystic ovaries, and isosexual precocious puberty.

Case presentation: We report here the clinical details of the case of Van Wyk Grumbach Syndrome in an 11-year-old girl who was first presented to the pediatric surgeon for hemoperitoneum. The patient underwent an emergency exploratory laparotomy, which showed enlarged ovaries with multiple cysts that were bleeding. She also had severe hypothyroidism, hyperprolactinemia, hyperestrogenism, pituitary adenoma, and delayed bone age. Significant improvement in symptoms was noted after thyroid hormone replacement therapy.

Importance and conclusion: This case highlights that it is crucial to consider thyroid assessment in a patient with multicystic ovaries to avoid misdiagnosis, unnecessary investigations for malignancy and/or surgical intervention, and possible complications.

Keywords: Case report; Hemoperitoneum; Hypothyroidism; Multicystic ovaries; Precocious puberty; Van Wyk Grumbach syndrome.

Figs. 1–2

Clinical presentation of the patient.

Figs. 3–5

(Left to right) Pelvic MRI in T2 sequence coronal section (3), axial section (4), and T1 sequence injected axial section (5) showing enlarged multicystic ovaries measuring for the right ovary: 97 × 55 mm, and for the left ovary: 62 × 50 mm.

Figs. 6–9

(Left to right) MRI of the Brain T2 coronal (5), T1 coronal (6), T1 coronal injected (7), T1 sagittal injected (8) showing significant hypertrophy of the pituitary gland measuring 25 × 16 × 13 mm, with homogeneous uptake after contrast without an endosellar mass.

Figs. 10–12

(Left to right) MRI of the Brain T1 coronal (9), T1 coronal injected (10), T2 coronal (11) showing normal sized pituitary gland measuring 21 × 12 × 5 mm.