Presentation
Distended abdomen with palpable masses and vaginal bleeding.
Patient Data
Enlarged ovaries, measuring (8.3 x 7.8 x 3.8 cm, volume=123 cm3) on the right, and (7.9 x 5.8 x 4.5 cm, volume=103 cm3), containing multiple cysts of various sizes up to 3.7 cm on the right and 3.6 cm on the left. Some left ovarian cysts show an echogenic content which may indicate intracystic hemorrhage.
The uterus is enlarged. The thickness of the corporeal region is higher than that of the cervical region (sign of precocious puberty).
Bilateral and relatively symmetrical enlargement of the breast tissue with no focal lesion (another sign of precocious puberty).
Decreased volume of the thyroid gland with inhomogeneous hypoechoic echotexture. The right lobe measures 3.1 x 1 x 1 cm (volume = 1.55 cm3) and the left lobe measures 3.7 x 1x 1 cm (volume = 1.85 cm3).
Enlargement of the pituitary gland with a homogeneous signal and enhancement. No focal lesion is seen. The pituitary stalk is of normal thickness, signal, and enhancement.
The MRI sequences (performed immediately after the MRI of the pituitary gland) demonstrate:
- an enlarged uterus, the thickness of the corporeal region is higher than that of the cervical region with thickening of the endometrium in keeping with a postpubertal uterus
- enlarged ovaries with multiple and bilateral cysts of various sizes. Some of the left ovarian cysts show a high signal on T1 and low signal on T2 (hemosiderin products) in keeping with an intracystic hemorrhage
- mild intraperitoneal effusion is noted
According to Greulich and Pyle technique the bone age is around 8 years.
The hormonal laboratory investigations reveal:
- TSH>100 μIU/mL (0.35 - 4.94)
- FT4<5.5 pmol/l (9.74 - 17.1)
- prolactin level = 53.92 ng/mL (2.8 - 29.2)
- estradiol (E2) = 122.7 pg/mL (6 - 27)
- FSH = 9.27 mUI/mL (0.3 - 2.8)
- LH = 0.478 mUI/mL (0.1 - 6.0)
Case Discussion
This case shows the characteristic features and hormonal profile seen in Van Wyk-Grumbach syndrome:
- hypothyroidism with a very high TSH level
- precocious puberty
- delayed bone age
The Van Wyk-Grumbach syndrome is considered as the only entity in which precocious puberty is associated with a delayed bone age.
Additional contributors: R. Bouguelaa, MD, ZE.Boudiaf, MD.