Background: Association of hypothyroidism, isosexual precocious puberty and macrogonadism was first described by Van Wyk Grumbach in 1960. Van Wyk Grumbach syndrome (VWGS) was reported predominantly in females, precocious puberty and clinical picture of hypothyroidism being the clinical hallmarks.
Objective and hypotheses: Publishing additional data on clinical and hormonal spectrum of VWGS, providing for better understanding of its pathology and primary diagnostics optimization.
Method: Describing our case (follow-up included). Comparing our data with available information.
Results: A 10 years 5 months old girl presented with short stature (113 cm), MaII, PubI, AxI, no menstruation. Constipation, hair loss, poor academic performance, fatigue, growth delay for years; thelarche at 9 years 9 months. Suspicion for Turner syndrome prompted additional studies: gynecological ultrasound, LH, FSH, and estradiol. Results: multicystic enlarged ovaries (20 and 22 ml), enlarged uterus (15 ml); thyroid ultrasound: 2.1 ml, normal structure, fT4 0.23 ng/dl, TSH 147.23, TPO-Abs 57.93, TG-Abs 86.93; estradiol 5.24 pg/ml (prepubertal), FSH 5.53 and LH 2.01 (both adequate for Tanner 2 stage); bone age: 5 years (height age 55.5 years). VWGS diagnosed and L-thyroxine prescribed (50 μg/day). In 10 weeks: fT4, TSH levels normalized, ovaries shrunk to 6.7 ml, catch-up growth of 2.5 cms.
Conclusion: Highly elevated level of TSH with quasi-normal (inappropriate to bone age) level of FSH (and LH) support the Anasti et al. (1995) hypothesis (direct impact of TSH upon the FSH-receptors). Macrogonadism preceeds the clinical signs of precocious puberty quasi-normal (appropriate to chonological age, inappropriate to delayed bone age) puberty development may be erroneously considered normal if taking into account only chronological age. Our data confirm the workup significance of X-ray in case of pediatric patients with hypothyroidism. Gynecological ultrasound is a valuable and highly recommended imaging study for female children with severe hypothyroidism.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology