VAN WYK GRUMBACH SYNDROME: CASE REPORT

Abstract

BACKGROUND: Children with primary hypothyroidism usually presents with delay in linear growth and pubertal development, but in rare instances they can present with precocious puberty. In 1960, presentation of primary hypothyroidism with precocious puberty was first reported and labelled as Van Wyk Grumbach syndrome (VWGS). We report a case of VWGS in a six years old girl. CASE DESCRIPTION: A six years old girl presented with precocious puberty accompanied by short stature and delayed bone age due to untreated hypothyroidism. On examination she had Tanner’s stage B3 (breast development) and P2 (pubic hair). She had normal external genitalia. On workup her Thyroid Stimulating Hormone was 100 mIU/ml, Free-T4 0.7 was ηg/dl, Follicle Stimulating Hormone 8.1 mIU/ml, Luteinizing Hormone 0.12 mIU/ml, estradiol 58 ρg/ml and prolactin 177 ηg/ml. Pelvic ultrasound revealed a uterine size of 5.4 × 3.2 × 3.6 cm and enlarged ovaries with multi cystic appearance. She was started on 50 µg of Levo-thyroxine per day and then was reassessed after 9 weeks of treatment which showed improvement in her Tanner’s Stage and hormonal profile. CONCLUSION: The girl was diagnosed as VWGS and responded to the treatment which was evident by improvement in her physical and biochemical assessment.

Keywords

• van wyk grumbach syndrome
• hypothyroidism
• precocious puberty
• short stature
• sexual maturation
• thyroid hormones
• gonadal steroid hormones