Molecular analysis of LHX3 gene in patients with isolated or combined deficiency o...
| Grant number: | 17/04294-0 |
| Support type: | Scholarships in Brazil - Scientific Initiation |
| Effective date (Start): | July 01, 2017 |
| Effective date (End): | December 31, 2018 |
| Field of knowledge: | Health Sciences - Medicine |
| Principal Investigator: | Luciani Renata Silveira de Carvalho |
| Grantee: | Julia Haddad Labello |
| Home Institution: | Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil |
Abstract Hypopituitarism is defined as the deficiency of one or more pituitary hormones per se or hypothalamic factors that release pituitary hormones. The most common initial clinical presentation is short stature in childhood due to growth hormone deficiency (GHD) and GH is the indicated treatment for linear growth in childhood and puberty and in the transition phase to improve body composition. The present study refers to a female patient, diagnosed with GHD at 8 years of age, not being treated with GH. She presented spontaneous puberty at age 15 and sought HC-FMUSP at 28 years of age with short stature and obesity. After initial investigation, hypopituitarism with TSH and GH deficiency was confirmed, and replacement with levothyroxine and GH was started, in order to improve body composition. The image of the pituitary hypothalamus region presented normal adenohypophysis, intact stem and neurohypophysis not visualized. The molecular study evidenced mutation in the GH1 gene in heterozygosis and family segregation was not performed. After 5 years of treatment with GH, hypercortisolism was diagnosed, confirmed in blood, urine and saliva tests and the image showed a pituitary macroadenoma with chiasm compression. The patient was submitted to surgical resection after suspension of the GH and the anatomo-pathological examination demonstrated ACTH-producing adenoma. Thus, this work will aim to identify the role of GH in the growth and development of ACTH-producing macroadenoma and to segregate the GH1 mutation in the patient's parents. (AU) | |