title: Bone involvement in males with Kallmann disease.
abstract: BACKGROUND
  Kallmann syndrome (KS) is a rare genetic condition characterized by congenital early-onset hypogonadotropic hypogonadism and anosmia or hyposmia. Male subjects are more frequently affected and present absent/delayed puberty, low testosterone levels with higher risk for osteoporosis. Therefore, to maintain normal levels of sex steroids and prevent bone loss, male KS needs life-long hormonal replacement therapy (HRT).
  
  
  OBJECTIVE
  The objective of our study is to assess bone involvement in subjects with KS currently treated with HRT.
  
  
  METHODS
  In our retrospective study, we analyzed data from medical records of patients with KS treated with HRT (either gonadotropins or testosterone preparations), including clinical history, biochemical parameters, and the following outcome measures: the bone mineral density (BMD) at the lumbar spine (LS), femoral neck (FN), and total body less head (TBLH); and the Vertebral Fracture Assessment (VFA) by Dual Energy X-ray Absorptiometry (DXA).
  
  
  RESULTS
  Clinical and instrumental data of 32 patients with KS were evaluated; their mean age was 30.32 (± 10.09) years, their mean body mass index (BMI) was 25.71 (± 3.23) kg/m(2). Four patients (12.5%) had a LS BMD Z score below the expected range for age. Five patients had vertebral deformities observed at VFA. Duration of HRT was related to bone health parameters: BMD at all measured sites were higher in patients receiving adequate HRT for more than 2 years compared with the patients treated for less than 6 months. A deficient vitamin D status was found in 43% of cases and it was prevalent in patients with shorter HRT.
  
  
  CONCLUSIONS
  Early starting and adequate duration of HRT are related to bone health parameters in patients with congenital hypogonadotropic hypogonadism due to KS. Restoring vitamin D sufficiency might also be advisable in this condition.
authors.affiliation: Department of Medical and Surgical Specialties and Dentistry, Second University of Naples, Naples, Italy. giovanni.iolascon@gmail.com.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Iolascon
authors.affiliation: Department of Medical and Surgical Specialties and Dentistry, Second University of Naples, Naples, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Frizzi
authors.affiliation: Department of Medical and Surgical Specialties and Dentistry, Second University of Naples, Naples, Italy.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Bianco
authors.affiliation: Department of Mental and Physical Health and Preventive Medicine, Second University of Naples, Naples, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Gimigliano
authors.affiliation: Department of Cardiothoracic and Respiratory Sciences, Second University of Naples, Via Pansini 5, 80131, Naples, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Palumbo
authors.affiliation: Department of Cardiothoracic and Respiratory Sciences, Second University of Naples, Via Pansini 5, 80131, Naples, Italy.
authors.forename: Antonia Maria
authors.initials: AM
authors.lastname: Sinisi
authors.affiliation: Department of Cardiothoracic and Respiratory Sciences, Second University of Naples, Via Pansini 5, 80131, Naples, Italy.|Department of Clinical and Experimental Medicine and Surgery, Endocrinology and Medical Andrology Section, Second University of Naples, Via Pansini 5, Naples, Italy.
authors.forename: Antonio Agostino
authors.initials: AA
authors.lastname: Sinisi
mesh_terms: D015502:Absorptiometry, Photon / Q000379:methods; D000328:Adult; D000728:Androgens / Q000627:therapeutic use; D015992:Body Mass Index; D015519:Bone Density; D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D005272:Femur Neck / Q000473:pathology; D006062:Gonadotropins / Q000627:therapeutic use*; D020249:Hormone Replacement Therapy / Q000379:methods*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D017436:Kallmann Syndrome / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D008159:Lumbar Vertebrae / Q000473:pathology; D008297:Male; D010024:Osteoporosis / Q000175:diagnosis / Q000209:etiology / Q000517:prevention & control; D012189:Retrospective Studies; D013739:Testosterone / Q000627:therapeutic use*; D014807:Vitamin D / Q000627:therapeutic use*
chemical_list: D000728:Androgens; D050071:Bone Density Conservation Agents; D006062:Gonadotropins; D014807:Vitamin D; D013739:Testosterone
keywords: Hormone replacement therapy; Hypogonadotropic hypogonadism; Kallmann syndrome; Osteoporosis