Abstract

Short stature is defined as a height <2 SD from the mean height for a child of the same sex, ethnicity and chronological age. We present a case series of proportionate short stature whose associated endocrinological deficits left us intrigued. A 9 ½-year-old boy presented with poor growth-velocity (GV) for 5 years and central diabetes insipidus (on the treatment for 1 year). His height was 118 cm (−2.6 SD) and his weight was 20 kg (−2.03 SD). MRI brain showed hypoplastic anterior pituitary with absent bright spot and growth hormone (GH) dynamics proved GH deficiency. A 10-year-4-month-old girl presented with poor GV. Her height was 106 cm (−4.44 SD) and her weight was 15 kg (−3.74 SD). Targeted investigations revealed multiple pituitary hormone deficiencies (central hypothyroidism, secondary adrenal insufficiency and GH deficiency). MRI brain showed reduced pituitary height with ectopic posterior pituitary. GH therapy commenced only after coverage with hydrocortisone. A 1-year-old boy was admitted with failure to gain weight and height for 4 months of age. His length was 57 cm (−7.89 SD) and weight: was 4.6 kg (−5.86 SD) with immature facies, frontal bossing and midfacial hypoplasia. Low GH values at the time of critical sample (blood glucose = 36 mg/dl) revealed GH deficiency. MRI brain demonstrated a hypoplastic pituitary gland. All proportionate short-statured children without obvious dysmorphism need detailed evaluation. GH deficiency can present as a spectrum from isolated deficiency to multiple pituitary (anterior and posterior) deficiencies and so the order of correction of the deficiencies is equally important.

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