Van Wyk and Grumbach syndrome: an unusual form of precocious puberty

Christens, Anja; Sevenants, Lieve; Toelen, Jaan; Bullens, Dominique; Casteels, Kristina

doi:10.3109/09513590.2013.871523

Cited by 5 publications

(1 citation statement)

References 23 publications

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“…Thus their receptors have some affinity for both hormones. 7 Resolution of the ovarian cysts is expected following thyroid hormone replacement therapy. A clue to the diagnosis is delayed bone age as hypothyroidism is one of the few causes of precocious puberty in which bone age is delayed.…”

Section: Discussionmentioning

confidence: 99%

Headache, Elevated Tumor Markers, and Pituitary Mass

Shanker

Janss

Patterson

2014

Clin Pediatr (Phila)

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A 12-year-old Caucasian female was admitted for evaluation of severe headaches progressively increasing in intensity, radiating to neck for the past 1 month. The history was significant for decreased energy level, difficulty in concentrating for past 6 weeks, slow linear growth, and excessive weight gain (4 inches increase in height and 30 pounds of weight gain over the past 3 years) and intermittent bilateral knee pain. There was no history of fever, rash, vomiting, and changes in bowel habits, temperature intolerance, or difficulty in vision. One week prior to admission, she came to emergency room with the complaint of headaches, was sent home on pain relieving medications after ensuring computed tomography of the brain was negative for intracranial bleed.Family history included type 1 diabetes mellitus and hypothyroidism in mother since she was a child and paternal grandfather had hyperthyroidism. Physical exam revealed height of 145.4 cm (14th percentile), weight of 66 kg (96th percentile) and obesity with a body mass index of 31.5 kg/m 2 . She had a heart rate of 70 beats per minute, respiratory rate of 16 per minute, blood pressure of 93/64 mm Hg, and oxygen saturation of 100%. She had normal visual fields. Her skin was dry and there was loss of lateral third of eye brows bilaterally. Abdominal examination did not reveal liver enlargement. Both breasts and pubic hair were Tanner stage 1. There were no signs of meningeal irritation, normal strength in all 4 limbs with normal gait and coordination.On admission, initial computed tomography of the brain revealed a mass in the pituitary region. This was confirmed with contrast-enhanced magnetic resonance imaging, demonstrating homogeneous enlargement of the pituitary gland measuring 17 mm × 14 mm × 9 mm with compression of optic nerves bilaterally. Laboratory testing done for evaluation of intracranial mass, showed an elevated α-fetoprotein 7.6 ng/mL (normal 0.6-5.6 ng/ mL), prolactin 67.6 ng/mL (normal 4.6-49.1 ng/mL), and a normal quantitative β-human chorionic gonadotropin( < 1.20 mIU/mL). She also had mildly elevated liver functions with aspartate aminotransferase of 42 U/L (normal 17-33 U/L) and alanine aminotransferase of 49 U/L (normal 6-35 U/L). Cerebrospinal fluid analysis showed mildly elevated protein level of 70 mg/dL, normal glucose and negative for α-fetoprotein.Additional testing showed very elevated thyroid-stimulating hormone (TSH > 1000 µIU/mL), low free T4 (<0.40 ng/dL), and positive thyroid peroxidase antibodies. She had a delayed bone age on hand radiograph and normal bilateral hip radiograph. Ultrasound of abdomen showed increased echogenicity of the liver with diminished periportal visualization suggestive of fatty infiltration and ultrasound pelvis revealed multiple ovarian cysts.In view of elevated TSH, low free T4, and positive thyroid autoantibodies, she was diagnosed with profound primary hypothyroidism secondary to Hashimoto's thyroiditis and pituitary hyperplasia due to hypothyroidism. Elevated α-fetoprotein and prolactin, fatty liv...

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Section: Discussionmentioning

confidence: 99%