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Case 127


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The parents of a 3-year and 8-month-old male child, presented to a medical appointment complaining of aggressive behavior, growth of pubic hair, enlarged penis and episodes of penile erection. Physical examination: 50.9 kg (112,22 lb.) of weight (z-score: > +3), 119,5 cm (3ft and 11 in) of height (z-score: > +3). Presence of hyperpigmented skin spots on the patient’s neck, hands and buttocks and significant testicular asymmetry (left: 8 ml, right: 25 ml). Previous exam results were brought: FSH < 0.66 mIU/mL (RV: 1.55-9.74 mIU/mL), LH < 0.216 MLU/mL (RV: 0.833–15.5 mIU/mL), total testosterone 327.0 ng/dL (RV 20 to 49 years: 132-813 ng/dL). Radiographic and scintigraphic evaluations were also performed and their results are herein attached.

According to the clinical history and the images presented, which is the most likely diagnosis?

a) Congenital adrenal hyperplasia


b) Precocious puberty of central origin


c) Neurofibromatosis Type 1


d) McCune-Albright syndrome



- McCune-Albright syndrome (MAS) is classically defined by the clinical triad: Polyostotic fibrous dysplasia + Cafè-au-lait spots + hyperfunctional endocrinopathies;

-The most common endocrinopathy associated with MAS is precocious puberty;

-The diagnosis requires extensive laboratory and clinical evaluation;

- Imaging tests, such as bone scintigraphy, is very important for the assessment of the extension and progression of the skeletal involvement.


Nieman LK, et al. Epidemiology and clinical manifestations of Cushing’s syndrome. In: UpToDate, Basow, DS (Ed), UpToDate, Waltham, MA, 2013.

Saenger P, et al. Etiology and evaluation of precocious puberty. In: UpToDate, Basow, DS (Ed), UpToDate, Waltham, MA, 2013.

Plon SE, et al. Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis. In: UpToDate, Basow, DS (Ed), UpToDate, Waltham, MA, 2013.

Sallum et al. Hipertireoidismo Relacionado à Síndrome de McCune-Albright: Relato de Dois Casos e Revisão da Literatura. Arq Bras Endrocrinol Metab 2008; 52/3.


Laila Bittar Lanna, 6th year medical student of UFMG School of Medicine.

E-mail: lailabittar[at]

Lucas Fonseca Rodrigues, 4th year medical student of UFMG School of Medicine.

Email: lucasbhfonseca[at]


Dr. Carlyle Marques Barral, Nuclear Physician at the Service of Nuclear Medicine - Hospital das Clínicas-UFMG.

E-mail: cbarral[at]

Dr. Viviane Santuari Parisotto Marino, Professor of the Department of Imaging (UFMG School of Medicine)

Email: parisottoviviane[at]


Thaís Salles Araújo, Marina Bernardes Leão, Glauber Coutinho Eliazar

Translated by

Hercules Hermes Riani Martins Silva, 4th year medical student of UFMG School of Medicine.
E-mail: herculesriani[at]

Lucas Resende Lucinda, 6th year medical student of UFMG School of Medicine. 

E-mail: lucasresendebh[at]


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