title: Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
abstract: BACKGROUND
  Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting adrenal steroid synthesis. In this study, the authors aim to evaluate the impact of CAH due to 21-hydroxylase deficiency on final height (FH), bone health, cardiometabolic risk, fertility, neurocognition and quality of life in a hospital-based sample from Tunisia.
  
  
  METHODS
  Twenty-six patients (11 males and 15 females; mean age: 27.4 ± 8.2 years) were recruited.
  
  
  RESULTS
  Mean FH was 159.5 ± 9.7 cm. Twenty-one patients (80.7%) had a FH below the target height. Ten patients (38.4%) exhibited bone demineralization. Eight patients (30.7%) had obesity. Lipid profile alterations and carbohydrate metabolism disorders were detected in 10 (38.4%) and 5 (19.2%) patients, respectively. Seven patients (27%) had insulin resistance. Ambulatory blood pressure monitoring showed abnormalities in 6 patients (23%). Increased carotid intima-media thickness was found in 14 patients (53.8%). Inhibin B level was decreased in 4 male patients. Semen analysis showed abnormalities in 4 of 10 patients. Testicular tumors were detected in 6 of 11 patients. Anti-Müllerian hormone level was reduced in 4 female patients. Six patients showed poly-cystic ovary syndrome. Brain magnetic resonance imaging showed abnormalities in 11 patients (42.3%). Quality of life was reduced in 14 of 22 patients (63.6%). Many of the suboptimal outcomes appeared to be related to poor adherence to medication schedules, some to overtreatment.
  
  
  CONCLUSIONS
  CAH patients have a number of issues due to the disease or its treatment. Regular follow-up, early lifestyle interventions, bone health assessment, testicular ultrasound and psychological management are needed.
authors.affiliation: Endocrinology Department, Hedi Chaker Hospital, Sfax, Tunisia.
authors.forename: Mouna Feki
authors.initials: MF
authors.lastname: Mnif
authors.forename: Mahdi
authors.initials: M
authors.lastname: Kamoun
authors.forename: Fatma
authors.initials: F
authors.lastname: Mnif
authors.forename: Nadia
authors.initials: N
authors.lastname: Charfi
authors.forename: Nozha
authors.initials: N
authors.lastname: Kallel
authors.forename: Basma
authors.initials: B
authors.lastname: Ben Naceur
authors.forename: Nabila
authors.initials: N
authors.lastname: Rekik
authors.forename: Zainab
authors.initials: Z
authors.lastname: Mnif
authors.forename: Mohamed Habib
authors.initials: MH
authors.lastname: Sfar
authors.forename: Mohamed Tahar
authors.initials: MT
authors.lastname: Sfar
authors.forename: Mongia
authors.initials: M
authors.lastname: Hachicha
authors.forename: Leila Ammar
authors.initials: LA
authors.lastname: Keskes
authors.forename: Mohamed
authors.initials: M
authors.lastname: Abid
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000503:physiopathology* / Q000523:psychology; D000328:Adult; D001827:Body Height; D015519:Bone Density; D005260:Female; D005298:Fertility; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D011788:Quality of Life; D013255:Steroid 21-Hydroxylase / Q000378:metabolism*; D016896:Treatment Outcome
chemical_list: D013255:Steroid 21-Hydroxylase