What can early puberty associated with short stature reveal?

Abstract

The management of precocious puberty in children demands a systematic diagnostic approach due to the potential risk of permanently stunted growth. Here, we present the case of a 6-year-old girl admitted for breast hypertrophy and metrorrhagia. She presented with mild mental retardation, obesity, facial hyperpigmentation, breast hypertrophy corresponding to pubertal stage S2P0A0M+, an abdominal mass, and notably, paradoxically short stature. Subsequent investigations identified peripheral precocious puberty (PPP), peripheral hypothyroidism, hyperprolactinemia, and a pituitary adenoma. The diagnosis of Van Wyk and Grumbach Syndrome (VWGS) was established. The patient's condition significantly improved with L-thyroxine treatment, leading to height normalization, regression of ovarian cysts, and enhanced intellectual capacity.