Van Wyk–Grumbach syndrome

This 7-year-old female, born out of non-consanguineous marriage, normal vaginal delivery, first in birth order without any history of prolonged perinatal complications presented with short stature, progressive enlargement of breasts, and galactorrhoea. Developmental milestones were achieved as per age, but her scholastic performance is below average. Menarche was attained at 5 years. Despite pubertal precocity, she had no pubic or axillary hair. On examination, height was 112 cm (less than third percentile) and weight 27.3 kg (50th–75th percentile). She had B4 breasts with no pubic or axillary hair. She had dry scaly skin. Thyroid function tests showed primary hypothyroidism, fT4 0.23 ng/dL (0.8–2.0), thyroid stimulating hormone (TSH) > 75 mIU/mL (0.4–4.4), anti-thyroid peroxidase antibody > 100 IU/mL (<35). Serum insulin like growth factor-1 was low and serum prolactin was high (88 ng/mL). Serum leuteinizing Hormone was prepubertal with high follicle stimulating hormone (FSH). Bone age was 5 years. MRI showed diffuse pituitary enlargement [Figure 1A]. USG pelvis revealed large multicystic ovaries (right ovary volume: 66.82 mL, left ovary volume: 49.65 mL) [Figure 1B].Figure 1:: (A) T1 weighted MRI pituitary showing diffusely enlarged pituitary due to thyrolactotroph hyperplasia. (B) USG pelvis showing large multicystic right ovary (volume: 66.82 mL)This is a case of Van Wyk–Grumbach syndrome, a combination of short stature, precocious puberty with multicystic ovaries, and pituitary hyperplasia due to untreated primary hypothyroidism. Pituitary hyperplasia occurs due to feedback hyperplasia by stimulation with thyrotropin releasing hormone. At the level of ovary, TSH stimulates FSH receptors due to “specificity spillover” and causes multicystic changes.[1,2] High prolactin may increase the sensitivity of ovaries to circulating gonadotropins.[3] Levothyroxine replacement results in dramatic improvement with shrinkage of hyperplastic pituitary and ovarian volume.[4] Precocious puberty with pituitary hyperplasia in the presence of short stature and delayed bone age gives clues towards Van Wyk–Grumbach syndrome, which may avoid unnecessary surgical misadventures. Disclosure The authors have nothing to disclose Declaration of Patient Consent The authors certify that they have obtained all appropriate patient consent forms. The patient has given his consent for images and other clinical information to be reported in the journal. The patient understands that names and initials will not be published and due efforts will be made to conceal the identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There were no conflicts of interest.