Fig. 3

Growth profiles of male (n = 10) and female (n = 15) patients with MPSI-H as compared with sex-specific French growth reference charts. SD standard deviation; b. Growth plots of 15 female patients shows normal growth velocity for approximately a third of the patients until the age of 14; two thirds of the patients had growth velocities below -1SD, one third remained below -2SD. Most female patients crossed the -1SD curve around the age of 11 years and -2SD curve by 13 years of age (around the age of puberty). There was a suboptimal pubertal growth spurt (between 6 and 15 cm as compared to the expected 25–28 cm), followed by growth cessation, as compared with sex-specific French growth reference charts. Thirteen (87%) female patients reached menarche at a median age of 13 years (range 11–15 years), albeit, all female patients demonstrated either premature ovarian failure or ovarian insufficiency. a. Although linear growth for males was maintained for several years, growth velocity fell to lower than -2SD around the age of puberty in all male patients. Puberty was normal for most, except for one patient who received therapy for premature puberty. The final adult height for male patients ranged from 120 to 145 cm (median height 142.5 cm), and target adult height was never reached