title: Precocious puberty in a girl with floating-harbor syndrome.
abstract: Floating-Harbor syndrome (FHS) is a rare genetic disorder characterized by short stature, delayed bone age, mild to moderate mental retardation, speech problems, and peculiar craniofacial features. In these patients pubertal development has been reported to be normal. In this paper, we describe a girl with FHS who developed precocious puberty. FHS diagnosis was made at 2 years 5 months on the basis of peculiar clinical features. At 7 years 7 months, the girl began pubertal development; her height was 112.5 cm (-2.42 SDS) and pubertal staging was B2 PH2 AH1. LHRH test underlined LH and FSH peak values of 11.7 mIU/ml and 6.2 mIU/ml, respectively. Plasma levels of 17beta-estradiol were normal (8.5 pg/ml). Ophthalmological and neurological examinations, including nuclear magnetic resonance imaging of the brain, were normal. Treatment with gonadotrophin-releasing hormone analogue was begun. At 10 years 1 month, because of reduced height velocity, her growth hormone secretion was evaluated with diagnosis of neurosecretory dysfunction; hGH therapy was begun. The patient showed a good response to hGH treatment, reaching a normal adult height (156.1 cm; -1.20 SDS). This report suggests that, in patients with FHS, precocious puberty should be taken into consideration; in these patients, a careful endocrinological followup for the possible presence of growth and pubertal disorders is needed.
authors.affiliation: Paediatric Endocrinology Unit, University of Florence, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Stagi
authors.forename: Fiorella
authors.initials: F
authors.lastname: Galluzzi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Bindi
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Lapi
authors.forename: Cecilia
authors.initials: C
authors.lastname: Cecchi
authors.forename: Roberto
authors.initials: R
authors.lastname: Salti
authors.forename: Francesco
authors.initials: F
authors.lastname: Chiarelli
mesh_terms: D001827:Body Height / Q000187:drug effects; D002648:Child; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D007987:Gonadotropin-Releasing Hormone / Q000031:analogs & derivatives / Q000627:therapeutic use; D006130:Growth Disorders / Q000097:blood / Q000188:drug therapy; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D009460:Neurologic Examination / Q000379:methods; D011629:Puberty, Precocious / Q000097:blood / Q000188:drug therapy / Q000209:etiology*; D035583:Rare Diseases / Q000150:complications* / Q000175:diagnosis*; D013577:Syndrome
chemical_list: D007987:Gonadotropin-Releasing Hormone; D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone