Gigantism and Acromegaly Differential Diagnoses

Updated: Jul 24, 2019
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Sasigarn A Bowden, MD  more...
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DDx

Diagnostic Considerations

Differentials in gigantism include the following:

  • Familial tall stature

  • Exogenous obesity

  • Cerebral gigantism (Sotos syndrome): From NSD1 gene mutation or other causes

  • Weaver syndrome

  • Estrogen receptor mutation

Carney complex

Carney complex is a familial multiple neoplasia and lentiginosis syndrome. Growth hormone (GH) ̶ producing pituitary tumors have been described in individuals with the disorder. Acromegaly may be diagnosed at an earlier age in Carney complex patients, of whom an estimated 10% manifest acromegaly. [11]

Carney complex can exist in the following forms:

  • Carney complex (NAME syndrome [nevi, atrial myxoma, myxoid neurofibroma, ephelides])

  • Carney complex (LAMB syndrome [lentigines, atrial myxoma, mucocutaneous myxomas, blue nevi])

Manifestations and primary findings in Carney complex include cardiocutaneous syndrome, which is characterized by the following:

  • Pigmented skin lesions and atrial myxomas

  • Lentigines (mucocutaneous)

  • Atrial myxomas (may be fatal)

  • Mucocutaneous myxomas

  • Blue nevi

  • Congenital melanocytic nevi

  • Schwannomas

Endocrine abnormalities of Carney complex include the following:

  • Acromegaly

  • Endocrine overactivity

  • Cushing syndrome

  • Sexual precocity in boys

  • Thyroid hyperplasia

  • Primary pigmented nodular adrenocortical disease

  • Testicular tumors

  • Uterine myxomas

McCune-Albright syndrome

McCune-Albright syndrome is manifested clinically by the presence of the following:

  • Polyostotic fibrous dysplasia of bone

  • Hyperpigmented skin macules

  • Precocious sexual development in children

  • Goiter

  • Hyperthyroidism

  • Acromegaly

  • Cushing syndrome

  • Hyperprolactinemia

  • Sexual precocity

  • Hyperparathyroidism,

  • Hypophosphatemic hyperphosphaturic rickets

Other

Pseudoacromegaly is defined as the presence of acromegaloid features in the absence of elevated levels of GH or insulinlike growth factor I (IGF-I) in patients with severe insulin resistance.

Pachydermoperiostosis syndrome is manifested clinically by finger clubbing, extremity enlargement, hypertrophic skin changes, and periosteal bone formation.

Differential Diagnoses