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  • Title: Pituitary function in 8 patients with familial pituitary dwarfism.
    Author: Batrinos ML, Pitoulis SA, Anousakis CT, Koutsilieris MN, Panitsa-Faflia C, Orphanos ST.
    Journal: Helv Paediatr Acta; 1981 Nov; 36(5):417-27. PubMed ID: 6273366.
    Abstract:
    Pituitary function was evaluated in four pairs of familial pituitary dwarfs (two sisters, 28 and 20 years old, two brothers 15 and 10 years old, one girl 19 years old and her brother 7 years old, and one girl 9 years old and her brother 3 6/12 years old), who all proved to have multiple pituitary hormone deficiency (MPHD), in order to find out whether a distinct intrafamilial or interfamilial pattern of deficiency existed. The response of FSH and LH to LRH, of TSH to TRH, of growth hormone (GH) to L-dopa, and of prolactin to sulpiride administration was studied. Basal levels of ACTH and cortisol (F) were also measured on two consecutive days. Basal FSH, LH and GH concentrations were below the sensitivity of the assay in all patients (except one who had measurable levels of LH) and showed no change after the appropriate stimulation. Basal TSH was normal in 6 patients and slightly increased in two members of the same family. Both these patients presented an exaggerated response to TRH. Three of the remainder patients showed a small and the other three no response to TRH. Basal prolactin values ranged within the normal limits, but prolactin was not increased during the sulpiride provocative rest. Mean basal ACTH was normal in 5 and low in 3 patients. Mean cortisol levels were normal in 5, near the lower normal limit in 2, and low in one patient. This patient had also a low ACTH concentration. It is concluded that the lack of a common pattern of hormone deficiency in all families indicates a variability in the expression of the hypothalamo-pituitary defect, which suggests that the familial MPHD dwarfism constitutes a genetically and pathogenetically heterogenous group.
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