Makindo Medical Notes

Related Subjects: |Causes of Short Stature in Children |Causes of Male Infertility |Causes of Tall Stature in Children |Marfan syndrome |Klinefelter Syndrome |Turner's syndrome (Children)

📖 Definition

• Short stature = height more than 2 standard deviations below the mean for age and sex (below the 3rd percentile).
• Represents children significantly shorter than expected for their age group.

📈 Phases of Childhood Growth

• 👶 Infancy (0–2 years): Rapid growth, mainly nutrition-driven.
• 👦 Childhood (2–puberty): Growth under influence of GH, thyroid hormones, insulin.
• 🧑‍🦱 Adolescence: Pubertal growth spurt → GH + sex hormones (androgens/estrogens).
• 🦴 Fusion of Epiphyses: Driven by estrogen, determines final height.

🧾 Causes of Short Stature

• 👨‍👩‍👧 Constitutional Growth Delay (~80%): Often familial, normal growth velocity.
• 🧠 Psychosocial factors: Neglect, chronic stress.
• 🥦 Nutrition: Poverty, malnutrition, ineffective diet (e.g. coeliac disease).
• 💊 Drugs: Long-term steroids, chemotherapy.
• 🧬 Genetic: Turner syndrome, Noonan, CF.
• 🩺 Chronic diseases: IBD, CKD, hypothyroidism, chronic infection (UTI, TB).
• ⬇️ GH deficiency: Severe, proportionate short stature.

📊 Growth Charts & Centiles

• Always plot on UK RCPCH growth charts → link
• 🔹 50th centile = average child
• 🔹 91st centile = taller than 91% of peers
• 🔹 Below 3rd centile = short stature

🧮 Midparental Height

• 👧 Girls: (Father + Mother height)/2 – 7 cm
• 👦 Boys: (Father + Mother height)/2 + 7 cm
• ⚠️ Not valid if parents’ heights are abnormal (e.g., pathological short/tall stature).

📏 Growth Velocity (per year)

• 0–1 yr: 23–27 cm
• 1–2 yr: 10–14 cm
• 2–3 yr: ~8 cm
• 3–5 yr: ~7 cm
• 5 yr–puberty: 5–6 cm
• Puberty: Girls 8–12 cm; Boys 10–14 cm

🦴 Bone Age

• Assessed with left wrist/hand X-ray.
• Compare with chronological age:
  • ⌛ Delay → endocrine causes (GH deficiency, hypothyroidism, constitutional delay).
  • ⏩ Advanced → precocious puberty, obesity.
• >2 SD difference = pathological suspicion.

🔍 Common Causes of Short Stature

• 👨‍👩‍👧 Familial (Genetic)
  • 📌 Features: Short parents, child follows normal growth curve, bone age ≈ chronological age.
  • 🧪 Investigations: Growth chart, detailed family history.
  • 💊 Management: Reassurance, regular monitoring.
• ⏳ Constitutional Delay of Growth & Puberty
  • 📌 Features: Normal growth velocity, late puberty, family history of “late bloomers,” delayed bone age.
  • 🧪 Investigations: Growth chart, bone age X-ray.
  • 💊 Management: Reassurance; most catch up with puberty.
• ⬇️ Growth Hormone (GH) Deficiency
  • 📌 Features: Proportionate short stature, increased fat, immature facial appearance, delayed bone age.
  • 🧪 Investigations: IGF-1 levels, GH stimulation test, pituitary MRI.
  • 💊 Management: GH replacement therapy.
• 🧬 Turner Syndrome (45,X)
  • 📌 Features: Webbed neck, lymphedema, wide-spaced nipples, short stature, primary amenorrhoea.
  • 🧪 Investigations: Karyotype, echocardiogram, renal ultrasound.
  • 💊 Management: GH therapy, estrogen replacement, multidisciplinary support.
• ⚕️ Chronic Disease
  • 📌 Features: Short stature with systemic signs (e.g., IBD, CKD, coeliac disease).
  • 🧪 Investigations: Coeliac serology, renal function tests, FBC, thyroid function tests (TFTs).
  • 💊 Management: Treat underlying disease, optimise nutrition.

🧪 Key Investigations

• 📋 Baseline: FBC, ESR/CRP, U&E, LFT
• 🦠 Coeliac screen (tTG + IgA)
• 🧬 Karyotype (girls → exclude Turner)
• 🧪 Endocrine: IGF-1, GH stimulation, TFTs
• 💧 Urinalysis (CKD)

📚 References

• Evaluation of Short and Tall Stature in Children – AAFP
• RCPCH Growth Charts: Official Charts

Cases — Short Stature in Children 📏👶

• Case 1 — Familial Short Stature 👨👩: A 9-year-old boy presents with height on the 2nd centile, but both parents are short (father 162 cm, mother 150 cm). Growth velocity is normal, bone age matches chronological age. Diagnosis: Familial short stature. Management: Reassurance; monitor growth chart; no treatment needed if otherwise healthy.
• Case 2 — Constitutional Delay of Growth & Puberty ⏳: A 13-year-old boy is the shortest in his class, with delayed puberty (no testicular enlargement). Growth velocity is normal, bone age 11 years. Father had late puberty. Diagnosis: Constitutional delay of growth and puberty. Management: Reassurance; monitor; short course of low-dose testosterone if psychosocially distressed.
• Case 3 — Growth Hormone Deficiency 🧬: An 8-year-old girl has height <0.4th centile, weight preserved, and growth velocity <4 cm/year. Exam: doll-like face, truncal obesity, micropenis noted in neonatal period. IGF-1 low, GH stimulation test abnormal. Diagnosis: Isolated growth hormone deficiency. Management: Recombinant GH therapy; monitor growth response and side effects.
• Case 4 — Chronic Systemic Disease (Coeliac) 🌾: A 7-year-old boy presents with faltering growth, height <2nd centile, chronic diarrhoea, and abdominal distension. Weight also reduced. Anti-tTG antibodies positive. Diagnosis: Short stature secondary to untreated coeliac disease. Management: Lifelong gluten-free diet; nutritional supplementation; growth monitoring.
• Case 5 — Turner Syndrome (Syndromic) 👧: A 10-year-old girl is evaluated for short stature and delayed growth. Exam: webbed neck, wide-spaced nipples, cubitus valgus. Karyotype: 45,X. Diagnosis: Turner syndrome. Management: Growth hormone therapy; oestrogen replacement at puberty; cardiac and renal screening.

Teaching Commentary 🧠

Short stature = height <2nd centile or growth velocity below expected. - Normal variants: familial short stature, constitutional delay. - Endocrine: GH deficiency, hypothyroidism, Cushing’s. - Systemic: malnutrition, coeliac, CKD, chronic inflammatory disease. - Syndromic/genetic: Turner, Down, skeletal dysplasias. 🔑 Always check: growth velocity, bone age, mid-parental height, systemic features, and screen for chronic disease. Management is cause-specific — from reassurance to hormone replacement or treating systemic illness.