ABSTRACT
X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological, and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and microduplication of chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in two families was dominant, with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2-3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight standard deviation scores (SDS) of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF1 and usually prolactin, due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection, but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high levels of expression of somatostatin receptor subtype-2 in tumor tissue. Postoperative use of adjuvant pegvisomant resulted in control of IGF1 in all five cases where it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management.
Subject(s)
Acromegaly/pathology , Gigantism/pathology , Acromegaly/genetics , Acromegaly/therapy , Adenoma/genetics , Adenoma/pathology , Adenoma/therapy , Adolescent , Child , Child, Preschool , Chromosomes, Human, X , Female , Gigantism/genetics , Gigantism/therapy , Humans , Infant , Male , Pituitary Neoplasms/genetics , Pituitary Neoplasms/pathology , Pituitary Neoplasms/therapy , Young AdultABSTRACT
Intrasellar pressure (ISP) measurement technique has recently opened a new line of research in neuroendocrinology. The absolute and mean ISP values were investigated in 25 patients consecutively operated at the Brasilia University Hospital (DF). These data were correlated with serum prolactin levels, number of visual quadrant affected, tumor size, quality of life (measured through the SF-36 scale) and graded headache (measured through the HIT-6 scale). No correlation was observed. The p values were 0.887; 0.137; 0.892; 0.812 and 0.884; respectively. The HIT-6 values were inversely and moderately correlated with total RAND SF-36 and its mental and physical dimensions.
Subject(s)
Adenoma/complications , Headache/etiology , Pituitary Neoplasms/complications , Quality of Life/psychology , Visual Fields/physiology , Adenoma/physiopathology , Adenoma/surgery , Adolescent , Adult , Aged , Female , Headache/psychology , Humans , Intracranial Pressure/physiology , Male , Middle Aged , Pituitary Neoplasms/physiopathology , Pituitary Neoplasms/surgery , Pressure , Severity of Illness Index , Young AdultABSTRACT
Intrasellar pressure (ISP) measurement technique has recently opened a new line of research in neuroendocrinology. The absolute and mean ISP values were investigated in 25 patients consecutively operated at the Brasilia University Hospital (DF). These data were correlated with serum prolactin levels, number of visual quadrant affected, tumor size, quality of life (measured through the SF-36 scale) and graded headache (measured through the HIT-6 scale). No correlation was observed. The p values were 0.887; 0.137; 0.892; 0.812 and 0.884; respectively. The HIT-6 values were inversely and moderately correlated with total RAND SF-36 and its mental and physical dimensions.
A técnica da medida da pressão intra-selar (PIS) abriu, recentemente, uma nova linha de pesquisa em neuroendocrinologia. O objetivo deste estudo foi aferir os valores absolutos da PIS e calcular a pressão intra-selar média (PIM) em uma população de 25 pacientes operados consecutivamente no Hospital Universitário de Brasília (DF). Não se observou correlação significativa entre a PIM e o número de quadrantes visuais comprometidos (p=0,137), área do tumor (p=0,892), nível de qualidade de vida mensurado pela escala SF-36 (p=0,812) e a presença e a intensidade da cefaléia mensurada pela escala HIT-6 (p=0,884). Contudo, o HIT-6 correlacionou-se de forma inversa e intensidade moderada com os valores de HIT-6 e suas dimensões mental e física.
