Paediatrics - tall stature

2021-03-02 12:00 AM

Referral for tall stature is much less common than that for short stature.

Tall stature

Referral for tall stature is much less common than that for short stature. Socially, it is more acceptable to be tall, particularly for boys. Nevertheless, tall stature, particularly when it is associated with inappropriately increased growth rates, may indicate an underlying growth disorder.

Causes

In the majority, tall stature is genetic in origin and inherited from tall parents. Other causes, although rare, need to be considered:

  • Familial.
  • Early (normal) puberty.
  • Obesity.
  • Endocrine disorders:
  • Precocious puberty;
  • GH excess;
  • Pituitary adenoma;
  • Androgen excess;
  • Congenital adrenal hyperplasia;
  • Hyperthyroidism;
  • Aromatase enzyme deficiency (very rare);
  • Oestrogen receptor defects (very rare).
  • Chromosomal abnormalities: Klinefelter’s syndrome (XXY); XYY; XYYY.
  • Other syndromes: Marfan, homocystinuria, Soto, Beckwith–Wiedemann.

History

A detailed history should be obtained.

Perinatal/infancy history

  • Size at birth.
  • Birth weight (head circumference).
  • Feeding and weight gain.

Systematic enquiry 

E.g. headaches/visual disturbance.

Growth history

  • Examine previous growth records if available.
  • Recent growth acceleration.
  • Signs of puberty.

Neurodevelopmental

  • Developmental delay.
  • School performance.

Family history

  • Tall stature.
  • Early puberty.

Endocrine disease.

Examination

  • Measure:
  • height;
  • weight;
  • head circumference.
  • Puberty staging (Tanner).
  • Observe dysmorphic features; goitre.
  • Assess growth velocity over a minimum 6-monthly interval.
  • Measure the parents’ heights and calculate:
  • MPH;
  • family height target.

Investigations

The following baseline screening tests should be carried out:

  • Karyotype (chromosomal abnormalities—Klinefelter’s syndrome).
  • Thyroid function tests/serum IGF-I (and IGFBP-3).
  • Sex hormone/LH and FSH levels.
  • Androgen levels (DHEAS; 17-OH progesterone).
  • BA X-ray.

Where clinically indicated GH suppression test (i.e. modified oral glucose tolerance test; GH levels normally suppressed to low levels).

Management

In familial tall stature, reassurance and information about predicted final height are usually sufficient. Early induction of puberty using low dose sex-steroid to advance the pubertal growth spurt and to cause earlier epiphyseal closure is occasionally considered. However, this produces variable results and there is a theoretical risk of complications (including thromboembolic disease and oncogenic risk).