Abstract and Introduction
Hartsfield syndrome (HS: OMIM 615465) is a rare congenital disease associated with a mutation of the fibroblast growth factor receptor 1 gene (FGFR1) with the main features of holoprosencephaly and ectrodactyly. Patients with HS also present with endocrinological deficits, such as isolated hypogonadotropic hypogonadism and central diabetes insipidus. Although there are several studies on infancy/childhood history, there is no study of infant/childhood/adolescent/young adult HS natural history and endocrinological findings. Here, we report a male patient with HS associated with a novel de novo FGFR1 mutation (c. 1868A > C). The endocrinological profile was evaluated at ages 1 and 31 years. This long-term follow-up study highlights functional changes in the posterior pituitary gland and features of bone metabolism disorder. We also describe the anterior pituitary function. To our knowledge this is the first description of the natural history of an HS patient through birth to young adult age. Although the HS infants reported in the literature develop central diabetes insipidus, little is known about the serial changes in pituitary gland function during growth in HS patients. In this study we describe an adult patient with HS who showed improvement of hypernatremia during early adulthood. In addition, we emphasize the importance of prevention and treatment of osteoporosis in HS.
Hartsfield syndrome (HS) is a rare congenital disease associated with a mutation of the fibroblast growth factor receptor 1 gene (FGFR1).[1–9] Little is known about adult HS patients and there is no study on natural history and endocrinological function in adult patients. In the present study, we report a case of a male HS patient with a novel FGFR1 mutation. We evaluated his endocrinological function both in childhood and adulthood and found interesting changes in the posterior pituitary gland and features of bone metabolism disorder.
J Endo Soc. 2020;4(5) © 2020 Endocrine Society