Male Child with Van Wyk-Grumbach's Syndrome and Other Complications of Long-Standing Primary Hypothyroidism: A Case Report

Abstract

Primary hypothyroidism in the juvenile population generally leads to retardation of linear growth and delay or even arrest of puberty. However, in rare conditions, children with long-standing hypothyroidism present with signs of Van Wyk-Grumbach's syndrome (VWGS) which include juvenile hypothyroidism, delayed bone age, and pseudoprecocious puberty. We report a rare case of prepubertal male child from Asian origin, presented with long-standing untreated hypothyroidism complicated with VWGS and other complications including obesity, short stature, hepatomegaly, asymptomatic mild pericardial effusion, and pituitary hyperplasia.

VanWyk-Grumbach syndrome in a male pediatric patient: A rare case report and literature review

“…These symptoms were initially described in 1905; however, VWGS was only defined in 1960 (1). A literature review revealed that VWGS has been rarely reported in male patients (13,14). The present study presented a rare case of a male pediatric patient with VWGS.…”

An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism

“…8,11,12,19) Most cases of VWGS have been reported in prepubertal girls, while male cases are rarer and present with testicular enlargement. 9,10) There are several hypotheses to explain these paradoxical symptoms. Both gonadotropins and TSH are glycoproteins; their overlap at the hormonal level is associated with the lack of specificity at the hypothalamic level.…”

“…TSH continuously stimulates FSH-R to induce pubertal changes. 9,10) In male VWGS patients, testicle volume increases without any virilization due to FSH-R continuous activation and Sertoli cell proliferation. 19) Hyperlipidemia is also thought to be caused by hypothyroidism.…”

“…Very few cases of this condition have been reported in boys. 9,10) We report the case of a prepubertal Korean boy with VWGS and AS. The patient had CH and AS caused by thyroid dysgenesis without thyroid antibody elevation.…”

“…VWGS is characterized by juvenile hypothyroidism, delayed bone age, and pseudoprecocious puberty. Very few cases of this condition have been reported in boys [ 9 , 10 ]. We report the case of a prepubertal Korean boy with VWGS and AS.…”