Objective: Congenital MPHD is a rare condition caused by mutations in pituitary transcription factors genes: PROP1, POU1F1 (PIT1), HESX1, LHX3, LHX4.
Design: We evaluated in a retrospective study the effects on growth and development in 29 patients with congenital MPHD (cMPHD), during hGH replacement therapy alone and combined with sex hormones. Twenty nine patients with cMPHD were included and diagnosed, treated and followed in our clinic from diagnosis to adult age. Measurements on growth and development were taken by the same medical team.
Results: Mean birth weight of 21/29 neonates was 3126±536 g. Mean birth length of 7/29 neonates was 48.7±2 cm. Neuromotor development was normal or slightly delayed. Mean age at referral was 9.5±7 years (m), 6.7±3.5 years (f) (p=0.17). Height (SDS) before treatment was -2.8±1.0 (m), -2.8±1.0 (f) (p=0.99). Mean age at initiation of hGH treatment was 9.9±6.7 years (m), 10.3±4.2 years (f) (p=0.85). Mean age at initiation of sex hormone treatment was 17.0±3.5 years (m), 17.1±2.3 years (f) (p=0.88). Penile and testicular sizes were below normal before and after treatment. Head circumference (SD) was -1.9±0.9 before and -0.6±1.8 at end of treatment (p<0.001). Adult height (SDS) reached -1.1±0.6 (p<0.001) for both males and females.
Conclusion: Despite the multiple pituitary hormone deficiencies including hGH, children with congenital MPHD present with a better auxological development than children with congenital IGHD or congenital IGF-1 deficiency. These findings may be due to irregular and incomplete hormone deficiencies increasing with progressive age and late initiation of puberty.
