The Van Wyk Grumbach syndrome is characterized by chronic hypothyroidism with high levels of thyroid-stimulating hormone (TSH), delayed bone age, precocious puberty but lacking pubic and axillary hair growth 1.
The acquired form of hypothyroidism is seen in children caused by chronic autoimmune thyroiditis. Its prevalence is ~2.5% (range 1.3-4%) in children 1.
Clinical presentation is typically with precocious puberty with signs of early menarche and breast development 1.
The most common cause of hypothyroidism is regarded as autoimmune thyroiditis 2. The excessive production of thyroid-stimulating hormone (TSH) stimulates follicle-stimulating hormone (FSH) receptors on ovaries that in turn results in the increased production estrogen. The estrogen induces the development of secondary sexual characteristics 1.
In males, the direct effect of hypothyroidism on prepubertal testis can result in macro-orchidism 2.
Delayed bone age determined from the appearances of epiphysis in x-rays of wrist and hand. The useful method is the Greulich and Pyle's atlas of bone ages, comparing ossification centers of healthy children with the patient 1.
Treatment and prognosis
Thyroxine replacement therapy is used to treat the signs and symptoms 2.
- 1. Vivek Panta and SumaBaral Van Wyk Grumbach syndrome with precocious puberty and ovarian cysts: Value of thyroid function tests doi:10.1016/j.epsc.2019.01.010
- 2. Ashu Rastogi, Sanjay Kumar Bhadada, Anil Bhansali. An unusual presentation of a usual disorder: Van Wyk-Grumbach syndrome. (2011) Indian Journal of Endocrinology and Metabolism. 15 (6): 141. doi:10.4103/2230-8210.83356 - Pubmed