Premature Menarche with Short Stature: A Reversible Cause Often Misdiagnosed

Abstract

Juvenile hypothyroidism, short stature with delayed bone age, and isosexual precocious puberty with reversal to prepubescent state after thyroxine replacement therapy are the hallmarks of Van Wyk–Grumbach syndrome (VWGS). We report three cases of female children aged 5, 6, and 8 years who presented with premature menarche, short stature, and dysmorphic facies. All exhibited clinical features of hypothyroidism, including coarse facies, dry skin, periorbital puffiness, and calf hypertrophy. Investigations revealed markedly elevated thyroid-stimulating hormone levels (>100 μIU/mL in two cases and 2303 μIU/mL in one case), low free thyroxine, and positive antithyroid peroxidase antibodies. Pelvic ultrasonography showed bilateral ovarian enlargement with multiple cysts, and bone age was markedly delayed in all. Levothyroxine therapy led to regression of menstrual bleeding, reduction in ovarian size, and improvement in growth parameters on follow-up. Hence, VWGS should be considered in prepubertal girls with premature menarche and delayed bone age. Recognition of this syndrome is crucial, as timely thyroid hormone replacement leads to complete resolution of pseudo-precocious puberty and prevents unnecessary investigations or surgical interventions.