ABSTRACT
Severe hypothyroidism can affect a variety of organs and can develop atypical manifestations. Peripheral precocious puberty may be secondary to other endocrinological diseases, which must be taken into account in the differential diagnosis in order to avoid unnecessary additional tests. Van Wyk-Grumbach syndrome is an infrequent manifestation characterized by severe hypothyroidism and incomplete precocious puberty. Diagnosis is made by clinical and complementary tests, and the main treatment goal is to achieve euthyroidism through hormone replacement. Prognosis is good once the treatment is established. The aim of this study is to review the available literature about Van Wyk-Grumbach syndrome following the PRISMA statement, and to present the first clinical case published in Spain. We have included the articles published during the period from 1905 to week 40 of 2022. A total of 68 articles have been selected for study and analysis, within which there are 99 published clinical cases. Girls accounted for 92.1% of cases (median age at the diagnosis 8.5 years). Metrorrhagia was the most prevalent symptom, present in 80.5% of the girls. Abdominal ultrasound was performed in 93.3% of the girls and 97.8% of them had at least one ovarian cyst. All cases were treated with levothyroxine, responding satisfactorily after the first doses of treatment. To conclude, Van Wyk-Grumbach syndrome is characterized by severe hypothyroidism and incomplete precocious puberty, which is important to keep in mind in order to avoid complementary exams and unnecessary surgical interventions.
