Final Adult Height (FAH) in Patients with PROR-1 Gene Mutations during GH Long-Term Therapy

Gavrilova Anna; Nagaeva Elena; Shiryaeva Tatiana; Petekova Valentina; Dedov Ivan

Background: PROP-1 gene mutations are responsible for most of the cases of multiple pituitary hormone deficiencies (MPHD).

Objective and hypotheses: We performed to evaluate the final adult height (FAH) in a group of patients with a PROP-1 gene mutations. Twenty-five patients (11 males) with a PROP-1 gene mutation, not treated before, were recruited. All the patients had been treated with a fixed rhGH dose (0.033 mg/kg per day) for 10.5 years (7.0–11.45). Fifteen patients (seven males) reachad FAH. At the time of the diagnosis secondary hypothyroidism was revealed in 83.3% of patients, secondary hypocortisolism – in 12.0%. In adult, secondary hypothyroidism was revealed in 100%, secondary hypogonadism in 100% of patients and secondary hypocortisolism in 33.3%. All patients received replacement therapy and were compensated all the time during the rhGH treatment.

Method: ‘Hypopituitarism panel’ genes were sequenced using a custom Ion Ampliseq gene panel and PGM semiconductor sequencer (Ion Torrent).

Results: Baseline characteristics of patients (Table 1): Characteristics at the end of the therapy (Table 2):

**Table 1.** (for abstract P2-647)
Characteristic	Males (n=11)	Females (n=13)	Total (n=24)
Chronological age at diagnostic (years)	5.0 (5.0 to 6.0)	6.0 (5.0 to 9.0)	6.0 (5.0 to 7.0)
Peak GH level on testing	0.95 (0.2 to 2.5)	0.33 (0.1 to 1.36)	0.5 (0.2 to 1.4)
Height at initiation, SDS	−3.25 (−4.25 to −3.06)	−4.02 (−5.49 to −3.14)	−3.77 (−4.46 to −3.12)

**Table 2.** (for abstract P2-647)
Characteristic	Males (n=7)	Females (n=8)	P
Height velocity in the first year, SDS	8.98 (6.85 to 11.25)	8.67 (7.35 to 13.02)
FAH, cm	176.0 (172 to 181.1)	160.5 (158.05 to 166.15)
HSDS (FAH)	0.24 (−0.41 to 0.98)	−0.25 (−0.67 to 0.69)	0.61
Predicted adult height (PAH), cm	179.0 (174.5 to 190.5)	162.5 (162.5 to 168.5)
Predicted adult height, SDS	0.65 (−0.03 to 2.38)	0.08 (0.08 to 1.0)	0.62
Δ PAH−FAH	0.00 (−0.26 to 2.14)	0.50 (−0.75 to 1.75)

Conclusion: Patients with a PROP-1 gene mutation showed a good response to GH therapy in our study. All patients with a PROP-1 gene mutation reached PAH.

ESPE Abstracts

P2-P647