ESPE Abstracts

Background: The congenital form of congenital multiple pituitary hormone deficiencies (cMPHD) is rarely differentiated from the acquired type. cMPHD is due to impaired production of several pituitary hormones, caused by mutations in the pituitary transcription factors genes: PROP1, POU1F1 (PIT1), HESX1, LHX3, LHX4. It includes short stature, delayed puberty, cognitive impairment, obesity and metabolic abnormalities.

Objective and hypotheses: To evaluate in a retrospective study the effects on growth and development during hGH replacement therapy alone and in combination with sex hormone therapy in patients with cMPHD. Out of 49 patients with MPHD, 29 were congenital. 15 belonging to consanguineous families and inbred clans, three of these families have more than one affected sibling.

Method: All patients were diagnosed, treated and followed in our clinic.

Results: Mean birth weight of 21/29 neonates was 3126+536 g (2500–3600). Mean birth length of 7/29 neonates was 48.7+2 cm (45–50). By history neuromotor development was normal or slightly delayed. Age at referral was 9.5+7 yearsears (0.3–21.4) (m) and 6.7+3.5 years (1.4–15.1) (f). Height (S.D.s) before treatment was −2.8+1.0 (−4.4 to −0.9) (m) and −2.8+1 (−4.8 to −1.7) (f). Mean age at initiation of hGH treatment was 9.9+6.7 years (0.5–22.5) (m) and 10.3+4.2 years (0.8–16.5) (f). Mean age at initiation of sex hormone treatment was 17.0+3.5 years (13.1–23.8) (m), 17.1+2.3 years (13.8–21.9) (f). Penile and testicular sizes were below normal before and after treatment. Head circumference (S.D.) was −1.9+0.9 before and −0.63+1.8 at end of treatment. Final height (S.D.s) reached −1.1+0.6 for both males and females.

Conclusion: Despite the fact that cMPHD can be recognised immediately or short time after birth, the age at referral by parents or family physician was late. Nonetheless, the final height was higher than patients with cIGHD, most probably due to the late onset of induced puberty.