title: Phenotypic spectrum and hormonal profile in hypogonadotropic hypogonadism.
abstract: BACKGROUND
  Hypogonadotropic hypogonadism (HH) is characterized by inappropriately low serum concentration of LH (luteinizing hormone) and FSH (follicle-stimulated hormone) in the setting of hypogonadism. A number of pathologic processes cause Hypogonadotropic hypogonadism but it can also occur as a part of various congenital syndromes. Objectives. To characterize the morphotypes and the hormonal profile of the HH patients enrolled in the COST Action BM1105 within "C.I. Parhon" National Institute of Endocrinology from May 2012 onward. Methods. The eligible patients were selected by using a general protocol that included: a detailed familial and personal history; a clinical evaluation focusing on genital development; a hormonal evaluation that aimed to exclude the acquired causes of HH and to characterize the basal/stimulated (triptoreline) profile of gonadotropins; a DNA extraction for genetic studies.
  
  
  RESULTS
  We examinated the medical records of patients admitted in our institute with the diagnosis of hypogonadotropic hypogonadism from May 2012 onward. There were 19 patients: 12 males and 7 females, age at diagnosis 28.03 ± 11.45 years (13.4-56 years). The phenotypic expressions were variable and the hormonal evaluation showed low values of basal and stimulated gonadotropins.
  
  
  CONCLUSIONS
  Although hypogonadotropic hypogonadism is a rare disease, the monospeciality profile of National Institute of Endocrinology enable the enrolment of a high number of patients in order to create clinical guidelines for evaluation/diagnosis and for treating GnRH deficient patients.
authors.affiliation: "C.I. Parhon" National Institutue of Endocrinology, Bucharest, "Carol Davila" University of Medicine and Pharmacy, Bucharest.
authors.forename: D
authors.initials: D
authors.lastname: Păun
authors.affiliation: "C.I. Parhon" National Institutue of Endocrinology, Bucharest, "Carol Davila" University of Medicine and Pharmacy, Bucharest.
authors.forename: I
authors.initials: I
authors.lastname: Gherlan
authors.affiliation: "C.I. Parhon" National Institutue of Endocrinology, Bucharest, "Carol Davila" University of Medicine and Pharmacy, Bucharest.
authors.forename: I
authors.initials: I
authors.lastname: Popescu
authors.affiliation: "C.I. Parhon" National Institutue of Endocrinology, Bucharest, "Carol Davila" University of Medicine and Pharmacy, Bucharest.
authors.forename: C
authors.initials: C
authors.lastname: Procopiuc
authors.affiliation: "C.I. Parhon" National Institutue of Endocrinology, Bucharest, "Carol Davila" University of Medicine and Pharmacy, Bucharest.
authors.forename: C
authors.initials: C
authors.lastname: Dumitrescu
authors.affiliation: "C.I. Parhon" National Institutue of Endocrinology, Bucharest, "Carol Davila" University of Medicine and Pharmacy, Bucharest.
authors.forename: A
authors.initials: A
authors.lastname: Brehar
authors.affiliation: "C.I. Parhon" National Institutue of Endocrinology, Bucharest, "Carol Davila" University of Medicine and Pharmacy, Bucharest.
authors.forename: D
authors.initials: D
authors.lastname: Dinu
authors.affiliation: "C.I. Parhon" National Institutue of Endocrinology, Bucharest, "Carol Davila" University of Medicine and Pharmacy, Bucharest.
authors.forename: C
authors.initials: C
authors.lastname: Neamtu
authors.affiliation: "C.I. Parhon" National Institutue of Endocrinology, Bucharest, "Carol Davila" University of Medicine and Pharmacy, Bucharest.
authors.forename: C
authors.initials: C
authors.lastname: Poiana
authors.affiliation: "C.I. Parhon" National Institutue of Endocrinology, Bucharest, "Carol Davila" University of Medicine and Pharmacy, Bucharest.
authors.forename: C
authors.initials: C
authors.lastname: Dumitrache
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood*; D006801:Humans; D007006:Hypogonadism / Q000453:epidemiology* / Q000378:metabolism* / Q000473:pathology*; D007986:Luteinizing Hormone / Q000097:blood*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012383:Romania / Q000453:epidemiology
chemical_list: D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone
keywords: Hypogonadotropic hypogonadism; hormonal profile; morphotypes