A 14-yr-old girl with delayed puberty and bumpy lips
The present case has been reported in Journal of Pediatrics. A 14-year-old girl presented to the endocrine department for evaluation of primary amenorrhea. Her medical history was remarkable for recurrent abdominal pain and diarrhea since infancy, with growth in the third percentile for weight and height.

Physical examination revealed “bumpy lips”, diastema of her anterior teeth, and several lesions on the tip of the tongue and on the oral mucosa, suggesting the presence of multiple mucosal/submucosal neuromas. The patient had a Marfanoid habitus with slight ligamentous laxity and clinodactyly of 1 finger. Laterocervical lymph nodes were palpable bilaterally without enlargement of the thyroid.

Due to the presence of mucosal/submucosal neuromas, multiple endocrine neoplasia type 2B (MEN2B) was suspected. Laboratory findings revealed calcitonin > 2000 pg/mL (1.0-5.5), carcinoembryonic antigen 10.8 ng/mL (< 5.0), erythrocyte sedimentation rate 29 mm/h (< 20), and C-reactive protein 1.1 mg/L (< 5). Urinary catecholamines were normal.

Ultrasound scanning of the thyroid showed a calcific hypoechoic nodule in the right lobe, 12 mm × 9 mm, with hyperechogenic spots and increased vascularization and confirmed the bilateral lymph nodal involvement (Figure 4; available at www.jpeds.com).

DNA analysis documented a heterozygous de novo mutation (c.2753T > C, p.M918T) of the RET kinase proto-oncogene. Total-body computed tomography showed another calcific nodule of 8 mm in the left thyroid lobe and a calcific nodule of 4.7 mm in the middle lobe of the right lung adherent to the pleura with 3 thin spicules, suspicious for metastasis. Removal of the thyroid gland, laterocervical lymph nodes bilaterally, and of the pulmonary metastasis was performed.

Key takeaway:-
- Prophylactic total thyroidectomy with central lymph node dissection is recommended as early as possible. If an index case is identified, first-degree relatives should be tested for RET mutations.

- Affected relatives should undergo total prophylactic thyroidectomy during the first year of life.

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