Avaliação endocrinologica do eixo hipotalamo-adeno-hipofise em portadores de defeitos de linha media facial com hipertelorismo / Endocrinologic evaluation of hypothalamohypophysial axis in patients with midline facial defects with hypertelorism

AUTOR(ES)
DATA DE PUBLICAÇÃO

2006

RESUMO

The goal of this study was to evaluate the endocrinologic function of the hypothalamohypophysial axis in a sample of patients with midline facial defects with hypertelorism (MFDH). These facial defects are rare, happening in an isolated way or associated to pictures of multiple congenital anomalies (MCA) and, in a lot of times, with aetiology and transmission pattern ignored. Besides the facial alterations, it can have association with hearing alterations and midline defects of central nervous system (CNS). In this area, it locates the center of the neuroendocrine system, the hypothalamohypophysial axis. The congenital deficiency of hormones can happen in association with other malformations, usually involving structures of the medium line. This way, it is justified the hormonal investigation of hypothalamohypophysial reservation in MFDH. The investigation protocol included specific anamnesis, determination of bone age and functional study postpharmacological incentive. All of the individuals were previously investigated by experienced clinical geneticist for diagnosis conclusion, being excluded those with known aetiology. They were appraised 20 individuals, being 04 masculine and 16 feminine. In this group, 10 presented the isolated form and 10, pictures of MCA. The age varied from 1, 4 to 20 years and they were compatible with the bone ages and puberal stage in all cases. Of the 20 individuals, 17 presented some dysfunction, and 12 would need a complemental investigation. The main dysfunction detected was GH no responsive or with reduced answer, PRL hyperresponse, normal basal cortisol with reduced answer, TSH hyperresponse, T4L reduced, LH and FSH hyperresponse. Among the isolated cases and associated to multiple anomalies, significant difference was not observed in the dosages of LH, FSH, GH, cortisol, TSH, T4L, T3 and PRL. Although in some cases, exist the need of complemental studies for elucidation of the discoveries, the results suggest alterations in the functional reservation of the hypothalamohypophysial axis in the individuals with MFDH. However, in most of the cases, these data are not reflected in the clinical behavior. This way, the investigation of the axis can be restricted to the cases in that there is evident clinical suspicion, or clinical picture specifically associated.

ASSUNTO(S)

hypertelorism deficiency anormalidades craniofaciais hormonios x deficiencia hormone hipertelorismo hypophysis craniofacial abnormality glandula pituitaria

ACESSO AO ARTIGO

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