ESPE Abstracts (2019) 92 P3-252

An Unusual Presentation of Hypothyridism: Van Wyk-Grumbach Syndrome

Imen Gargouri, Faten Hadjkacem, Wajdi Safi, Wafa Ben Othman, Nadia Charfi, Nabila Rekik, Mouna Mnif, Mohamed Abid

Department of Endocrinology, Sfax, Tunisia

Introduction: The association of juvenile hypothyroidism, precocious puberty and ovarian enlargement is known as Van Wyk and Grumbach syndrome (VWGS). This diagnosis is considered on the basis of imaging findings and thyroid function analysis.

Case report: Herein we report a case of 9 years old girl was referred to the endocrinology department with a suspicion of precocious puberty after having progressive breast enlargement and premature menarche. Upon physical examination, her height was 91.5 cm (< -4SDS), with weight of 24 kg (-1 SDS). She had a puffy face with yellowish discoloration and very dry skin, and her thyroid gland was normal on palpation. On pubertal assessment, her breasts were Tanner stage 3 and pubic hair was Tanner stage 1. Hormonal investigations revealed elevated thyroid-stimulating-hormone (TSH) (>150µUI/ml) and low Free-thyroxine. Follicle-stimulating-hormone level was 7.5 mUI/ml, Luteinising-hormone (LH) level was < 0.07 mUI/ml (0.1–6.0) and prolactin circulating level were normal. Thyroid-peroxydase antibodies were elevated. Abdominal ultrasound was normal with normal appearance of the uterus, ovaries and no visible endometrial line. X-ray of the wrist revealed a delayed bone age. Ultra sonography of the thyroid showed a heterogeneous highly suggestive for thyroiditis. Brain magnetic resonance imaging (MRI) showed an enlarged pituitary gland, with homogeneous enhancement.

The diagnosis of ovarian hyper stimulation secondary to severe hypothyroidism was made and thyroid hormonal replacement was started on levothyroxine, increased gradually to 175 µg (7µg/Kg/day). Upon follow-up, 2months after starting on treatment, she reported significant improvement of clinical features of hypothyroidism and there was a significant involution of her breast tissue.

Repeat laboratory tests 6 months later showed normalisation of TSH and pituitary MRI 10 months after thyroid replacement therapy, showed a reduction in the size of the gland.

Conclusion: This case demonstrates that VWGS should be kept in mind even in patients without cystic ovarian enlargement. The mechanism of VWGS is not yet clear, multicystic ovaries and hyperfunction may result from elevated levels of circulating FSH. It is also possible that increased sensitivity of the ovaries to the circulating gonadotropins could result from the hypothyroid state directly or via increased prolactin. In patients with isosexual pseudo-pubertal precocity, early recognition of this diagnosis and initiation of thyroid hormone replacement can avoid further diagnostic procedure and unnecessary surgery. It helps to resolve symptoms and improve final height.

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