ABSTRACT
Our experience exemplifies the varied clinical presentations of patients with MEN IIb. This syndrome may be familial or sporadic, and clinical stigmata may be identifiable in infancy, particularly the characteristic facies and the appearance of ganglioneuromas. First-degree relatives of affected propositi and individuals with other stigmata of the syndrome should be screened carefully and repeatedly for both medullary thyroid carcinoma and pheochromocytoma. The availability of sensitive screening tests may permit detection of C-cell hyperplasia of the thyroid and adrenal medullary hyperplasia before the development of malignancy or hemodynamic consequences of pheochromocytoma. Early detection of these thyroid and adrenal disorders will permit early surgical intervention.
Subject(s)
Adrenal Gland Neoplasms/genetics , Carcinoma/genetics , Ganglioneuroma/genetics , Multiple Endocrine Neoplasia/genetics , Pheochromocytoma/genetics , Thyroid Neoplasms/genetics , Adolescent , Adult , Child, Preschool , Female , Humans , MaleABSTRACT
Hypothyroidism has a number of signs and symptoms known to most all clinicians. However, the disorder has many other presentations that are less frequently recognized. These other manifestations, though not seen often, are also not uncommon. Hypothyroidism is an easily treated, frequent disease, and can be misdiagnosed for years before becoming apparent. Although its symptoms are usually readily reversible with treatment, lack of recognition of its rarer signs and symptoms can lead to unnecessary morbidity. Awareness of the diversity of presentation of this disease may lead to early, effective treatment.
