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Table 1 General, auxological and endocrinological characteristics of our patients

From: Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis

Main characteristics Case 1 Case 2 Case 3 Case 4
Sex (Female: Male) F F M F
Parental age, yrs^ (Mother: Father) 25:26 33:36 25:28 34:36
Target height, cm (SDS) 162.6 (0.1 SDS) 159 (-0.5 SDS). 166.8 (- 1.2 SDS) 159.5 (-0.5 SDS)
Gestation (weeks) uncomplicated (41) uncomplicated (40) uncomplicated (40) uncomplicated (39.4)
Birth-weight, gr (SDS) 2.650 (-2.4) 2.850 (-1.6) 3.140 (0.3 SDS) 2.370 (-1.6 SDS)
Birth-length, cm (SDS) 45 (-3.2) 46 (-2.4) 49 (-0.4 SDS) 45 (-2.4 SDS)
OFC, cm (SDS) 34 (-0.5) - 33 (-1.1 SDS). 32 (-1.6 SDS)
Neuromotor development Delayed Moderately delayed Delayed Delayed
9p trisomy diagnosis At birth 7 months 3 years 9 months 2 years 2 months
Chromosomal study 47,XX, t (9; 14) (q12; p11.1), +der (9)t(9;14) (q12; p11.1) [24] 46,XX,-9, dup (9) (p12; p22) [24] 46,XY, der (22)t(9;22)(p21; p12). [24] 46,XX, dup(9)(p24.3-p13.3)
Postnatal growth delay Yes Yes Yes Yes
GH stimulation tests (type)* (C) - (A) (A) - (C) (GA) - (C) (C) - (GA)
  Basal GH level (ng/mL) 0.9 - 1.3 1.7 - 0.2 0.7 - 1.1 0.4 - 0.5
  Peak GH level (ng/mL) 7.0 - 7.4 5.0 – 13.0 6.3 – 4.3 9.6 – 8.8
GH axis dysfunction type GHD GHNSD GHD GHD
GH treatment (Y:N) Yes Yes No No
Puberty onset, B2 or G2 (yrs) 11.2 14.5 14.8 -
  B3 or G3 11.9 15.6 16.2 -
  B4 or G4 12.9 16.9 17.5 -
Final height, cm (SDS) 156.9 (-0.9 SDS). 154.4 (-1.3 SDS) 157.5 (-2.6 SDS) -
  1. OFC: Occipito-Frontal head Circumference; GH: Growth Hormone; GHD: Growth Hormone Deficiency; GHNSD: Growth Hormone Neurosecretory Dysfunction.
  2. * (A) = arginine; (C) = clonidine; (GA) = GHRH + arginine; ^At conception.