Resumo

MORA-BAUTISTA, Víctor M; MENDOZA-ROJAS, Víctor  e  CONTRERAS-GARCIA, Gustavo A. Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association: Clinical case. Arch. argent. pediatr. [online]. 2017, vol.115, n.3, pp.e170-e174. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2017.e170.

Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel. Central hypothyroidism, growth hormone deficiency and low luteinizing hormone-follicle-stimulating hormone levels were observed and multiple pituitary hormone deficiencies diagnosis was made. Basal cortisol, adrenocorticotropic hormone and prolactin levels were normal. He received thyroid hormonal substitution. Multiple pituitary hormone deficiencies are an unusual feature of De Lange syndrome. We suggest evaluating all different endocrine axes in these patients.

Palavras-chave : Cornelia de Lange syndrome; Short stature; Cryptorchidism; Congenital malformations; Multiple pituitary hormone deficiencies.

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