Background: 2550% of paediatric patients with chronic endocrine diseases are lost for follow-up in adult care.
Aims and objectives: A standardised medical and psychological work-up to identify disease specific morbidity and to comprehend quality of life in adolescents with chronic endocrine diseases at the time of transition from paediatric to adult care.
Methods: The quality of life (DISABKIDS1 and KIDSCREEN2) and serum markers of fertility (anti-mullerian hormone (AMH), Inhibin B, oestradiol, testosterone) were examined in adolescence after near final height was reached. Results are presented as mean±S.D. Patients and parents gave informed consent and approval by the local ethics committee was obtained.
Results: 120 patients aged 1430.6 years (70 females, 50 males) were recruited: Turner Syndrome (TS) (n=23), congenital adrenal hyperplasia (n=21), hypopituitarism with hypogonadotrophic hypogonadism (HH) and T/E2 replacement (HHH; n=9), hypopituitarism without HH (HP; n=34), SGA short stature (n=18) and others (n=15). DISABKIDS TRS was 82.3±14.0 (reference 76.9±18.31; n.s.). KIDSCREEN TRS (ten sub-scales) ranged between 64.7±24.9 and 92.9±11.6 (reference 66.8±19.3 and 90.3±15.52; n.s.).
|AMH (ng/ml) (♀:1.37.0 ♂:24)||Inhibin B (ng/l) (♀:10200 ♂:100400)||Estradiol (pg/ml) (♀:40250)||Testosterone (ng/dl) (♂:2501000)||Testes (ml)|
|HHH Female (n=4)||0.94±0.62||8.67±2.88||94.35±40.29|||||
|Male (n=5)||23.07±21.63||67.0±35.10||||737.40±312.02||li10.4±8.4 re10.2±8.6|
|HP Female (n=14)||2.76±1.30||60.82±42.29||77.04±101.89|||||
|Male (n=20)||6.40±3.53||272±170.19||||629.15±258.24||li19.3±4.3 re19.8±4.3|
|CAH Female (n=12)||3.15±3.77||46.66±49.51||132.81±193.13|||||
|Male (n=9)||6.03±3.02||180.71±92.10||||482.78±186.75||li18.6±6.0 re18.9±5.6|
Conclusion: The quality of life in these patients is normal. HH in girls is associated with lower serum AMH and Inhibin B as in TS. HH in boys is related to higher serum AMH and lower Inhibin B. This may reflect gonadal immaturity in females and males with HH but the relevance for gonadal reserve remains unclear.
Funding: This study was supported with an unrestricted research grant to Janna Mittnacht from Pfizer.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology