S K Bhowmick1, V K Gidvani, K R Rettig. 1. Department of Pediatrics and Adolescent Medicine, Division of Endocrinology and Metabolism, University of South Alabama, 2451 Fillingim Street, MSTN 212, Mobile, AL 36617-2297, USA.
Abstract
OBJECTIVE: To describe two patients with hereditary gingival fibromatosis (HGF) and growth hormone deficiency and to review the literature on HGF and related endocrine abnormalities. METHODS: We present case reports of two patients (first cousins)-an 8-year-old girl and a 13-year-old boy-with an existing diagnosis of HGF, who were assessed because of presumed growth failure. Both patients underwent growth hormone stimulation testing and more in-depth endocrine evaluation, including measurement of morning cortisol, adrenocorticotropic hormone (ACTH), and prolactin levels as well as thyroid function tests. An ACTH stimulation test was also performed. Radiologic evaluation included assessment of bone age and magnetic resonance imaging of the brain. RESULTS: In addition to HGF, both patients had short stature, subnormal growth velocity, and delayed bone age but no abnormalities on magnetic resonance imaging of the brain. Serum prolactin levels and results of thyroid function tests were normal. Subnormal growth hormone response was noted during hypoglycemia and pharmacologic stimuli with clonidine and levodopa. The female patient, who also had recurrent hypoglycemic episodes, had a suboptimal cortisol and ACTH response during hypoglycemia. On the ACTH stimulation test, she showed an inadequate cortisol response at 30 minutes but a normal response at 60 minutes. The male patient had normal morning cortisol and ACTH levels plus a normal response to ACTH stimulation. Both patients are responding well to treatment with growth hormone. The girl is also receiving cortisol replacement and has had no further episodes of hypoglycemia. CONCLUSION: Although HGF has been described as an isolated finding, it can occur as part of a syndrome, including infrequent endocrine abnormalities such as growth hormone insufficiency. The cause of the growth hormone deficiency remains unclear in these two patients. We believe that patients with HGF should be monitored carefully for a prolonged period for growth as well as other endocrine abnormalities.
OBJECTIVE: To describe two patients with hereditary gingival fibromatosis (HGF) and growth hormone deficiency and to review the literature on HGF and related endocrine abnormalities. METHODS: We present case reports of two patients (first cousins)-an 8-year-old girl and a 13-year-old boy-with an existing diagnosis of HGF, who were assessed because of presumed growth failure. Both patients underwent growth hormone stimulation testing and more in-depth endocrine evaluation, including measurement of morning cortisol, adrenocorticotropic hormone (ACTH), and prolactin levels as well as thyroid function tests. An ACTH stimulation test was also performed. Radiologic evaluation included assessment of bone age and magnetic resonance imaging of the brain. RESULTS: In addition to HGF, both patients had short stature, subnormal growth velocity, and delayed bone age but no abnormalities on magnetic resonance imaging of the brain. Serum prolactin levels and results of thyroid function tests were normal. Subnormal growth hormone response was noted during hypoglycemia and pharmacologic stimuli with clonidine and levodopa. The female patient, who also had recurrent hypoglycemic episodes, had a suboptimal cortisol and ACTH response during hypoglycemia. On the ACTH stimulation test, she showed an inadequate cortisol response at 30 minutes but a normal response at 60 minutes. The male patient had normal morning cortisol and ACTH levels plus a normal response to ACTH stimulation. Both patients are responding well to treatment with growth hormone. The girl is also receiving cortisol replacement and has had no further episodes of hypoglycemia. CONCLUSION: Although HGF has been described as an isolated finding, it can occur as part of a syndrome, including infrequent endocrine abnormalities such as growth hormone insufficiency. The cause of the growth hormone deficiency remains unclear in these two patients. We believe that patients with HGF should be monitored carefully for a prolonged period for growth as well as other endocrine abnormalities.
Authors: Johanna Tommiska; Johanna Känsäkoski; Lasse Skibsbye; Kirsi Vaaralahti; Xiaonan Liu; Emily J Lodge; Chuyi Tang; Lei Yuan; Rainer Fagerholm; Jørgen K Kanters; Päivi Lahermo; Mari Kaunisto; Riikka Keski-Filppula; Sanna Vuoristo; Kristiina Pulli; Tapani Ebeling; Leena Valanne; Eeva-Marja Sankila; Sirpa Kivirikko; Mitja Lääperi; Filippo Casoni; Paolo Giacobini; Franziska Phan-Hug; Tal Buki; Manuel Tena-Sempere; Nelly Pitteloud; Riitta Veijola; Marita Lipsanen-Nyman; Kari Kaunisto; Patrice Mollard; Cynthia L Andoniadou; Joel A Hirsch; Markku Varjosalo; Thomas Jespersen; Taneli Raivio Journal: Nat Commun Date: 2017-11-03 Impact factor: 14.919