[Dwarfism due to familial panhypopituitarism].
Three sisters of 27 7/12, 13 8/12 and 9 1/12 years of age, respectively, with proportionate dwarfism, high pitched voice and lack of sexual development are described. All the patients had very low serum levels of immunoreactive growth hormone (GH), as well as of LH and FSH. Hypoglycemia induced by insulin and arginine infusion failed to increase GH levels, and the administration of the hypothalamic LH-FSH releasing hormone (LH-RH) did not elicit any response in the secretion of gonadotropins. The oldest sister developed hypothyroidism in recent years, since the I131 thyroid uptake was normal ten years before; her serum TSH was low and did not change with TRH stimulation. In addition, a low pituitary ACTH reserve was demonstrated by the hypoglycemia and metirapone tests. Case 2 showed partial pituitary TSH and ACTH reserve, whereas the youngest child only had low TSH pituitary reserve. These patients had all the clinical and laboratory characteristics of familial panhypopituitarism, with normal sella turcica. Genetic transmission in this cases is consistent with the autosomal recessive form, which is the most frequent type of inheritance of this entity. Consanguinity can not be ruled out. The results of the hypothalamic-pituitary functional tests apparently suggest that the primary defect could be located at the pituitary level. It is also possible that the pathological process may have a progressive evolution.
D000293:Adolescent; D000328:Adult; D002648:Child; D004393:Dwarfism, Pituitary / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000502:physiology; D010375:Pedigree; D010906:Pituitary Hormone-Releasing Hormones / Q000378:metabolism; D013972:Thyrotropin / Q000494:pharmacology
D010906:Pituitary Hormone-Releasing Hormones; D013972:Thyrotropin
Enanismo por panhipopituitarismo familiar.