Multiple endocrine neoplasia 2B in two siblings with short stature, an uncommon association

Ana Vieites; Estefania Marini; Pimienta Dayan Troncoso; Eugenia Elias; Gabriela Sanso; Ballerini Maria Gabriela; Andrea Arcari; Ana Keselman

doi:10.1530/endoabs.110.P494

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Endocrine Abstracts (2025) 110 P494 | DOI: 10.1530/endoabs.110.P494

ECEESPE2025 Poster Presentations Endocrine Related Cancer (76 abstracts)

Multiple endocrine neoplasia 2B in two siblings with short stature, an uncommon association

Ana Vieites ¹ , Estefanía Marini ¹ , Dayan Troncoso Pimienta ¹ , Eugenia Elías ² , Gabriela Sansó ¹ , Maria Gabriela Ballerini ¹ , Andrea Arcari ¹ & Ana Keselman ¹

Author affiliations

¹Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE) CONICET, FEI, Hospital de Niños Ricardo Gutiérrez, División de Endocrinología, Buenos Aires, Argentina; ²Hospital de Niños Dr Ricardo Gutiérrez, Cirugía, Buenos Aires, Argentina

JOINT1705

Introduction: Multiple endocrine neoplasia (MEN) is an autosomal dominant syndrome produced by mutations of the RET proto-oncogene and is characterized by a predisposition to the development of endocrine tumors. Subtype 2B (MEN 2B) is associated with the presence of medullary thyroid carcinoma (100%), pheochromocytoma (50%), mucosal neuromas, gastrointestinal symptoms, ocular alterations, marfanoid habitus, and tall stature.

Patients: Index case: Male, 3 years of age, referred for short stature. History of chronic constipation. Weight 15. 4 kg (pc 50-75), height 89. 5 cm (-2. 05 SD). Physical examination revealed everted upper eyelids, prominent lips, mucosal neuromas on the tongue, flat nose, large rotated ears, relative macrocephaly and body disproportion. Initial routine studies showed growth factors, thyroid profile, karyotype and growth hormone stimulation test, within normal limits. His 1-year-old sister was also referred for short stature (-3. 08 SD). Clinical examination showed prominent lips. Their mother had prominent lips too, and mucosal neuromas on the tongue. With clinical suspicion of MEN2B, calcitonin, thyroid ultrasound and RET gene study were requested. Total thyroidectomy was performed on the index case his sister and his mother without complications. Pathology reports medullary thyroid carcinoma in the three cases. The mother begins follow-up at an adult center.


	Calcitonine	Thyroid ultrasound	RET molecular study
Index case	9. 47 pg/ml (RV: <11)	Solid nodular image 4x2x2 mm with microcalcifications	Phatogenic Variation Met918Thr Exon16 RET
Sister	37. 2 pg/ml (RV: <11)	Normal
Mother	593 pg/ml (RV: <5)	multinodular goiter with adenomegaly in the central compartment

Conclusions: Although one of the features that characterizes MEN2B is tall stature, cases of pediatric patients with short stature have been reported in the literature. Tha cause is still unknown. For this reason, it is important to keep it in mind in the presence of clinical stigmata as a differential diagnosis, since early prophylactic thyroidectomy (before one year of age) substantially modifies the prognosis of the disease.