A 15-year-old male presents with concerns of short stature and delayed puberty. Differential diagnoses include gonadotrophin deficiency, gonadal failure, and constitutional delay of growth and puberty. Physical exam and bone age assessment support a diagnosis of constitutional delay of growth and puberty, which is a condition of temporary short stature and delayed puberty but normal expected progression and attainment of full adult height. Reassurance and monitoring are the typical management approach.
3. DEFINITION
Handbook of Hospital Paediatrics, 2nd Ed.
◦ Height in which is less than 3rd percentile for age or a growth rate less than 25th percentile for age
Nelson Essential of Pediatrics 6th Edition
◦ Subnormal height relative to other children of the same gender and age, taking family heights into
consideration.
4. GROWTH’S REQUIREMENTS
Factors important for growth :
a) Adequate nutrition
b) Normal genetic constitution
c) Sufficient hormone (growth hormone, thyroid hormone, cortisol and etc..)
d) Absence of chronic illness
e) Psychosocial wellbeing
5. Am I short
stature ??
When child is too short
compared to his/her peers of
same age
When a child younger
his/her age is taller than him
When the child’s height is
less than 3rd percentile for
his/her age and sex
15. AETIOLOGY
Small for Gestational Age (SGA) – the babies that have birth weights below the 10th
percentile for babies of the same gestational age
infants born SGA frequently exhibit increased concentrations of GH and have low levels of IGF-I
and IGFBP-3, suggesting that SGA neonates are GH insensitive.
90 percent of babies born SGA catch up in growth by the age of 2.
Normal Variant – Family short stature
http://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=90&ContentID=P02411
18. CASE SCENARIO
A 6 years 3 months old Chinese boy presented with short stature. He had poor growth since 1
year old but remained active and well. He had normal bowel and urinary habits. He has 2 elder
sisters, aged 10 years and 8 years. Both parents are non consanguineous and are of normal
height. He was not dysmorphic and had primary dentition. His body was proportionate with no
skeletal deformity. His weight was at 10th centile and height was below 3rd percentile (correspond
to?) , while head circumference was at 10th percentile. Systemic examination was normal.
WHAT YOUR DIFFERENTIALS DIAGNOSES?
Original article.
http://www.jmems.org/index.php/jmems/article/viewFile/1/1
19. CASE SCENARIO (continued)
Investigation
FBC
◦ Hb 120 g/L
◦ HCT 43 %
◦ WBC 9 x 109/L
◦ Platelet 378 x 109/L
ESR
◦ 2 mm/hr
Comment.
What further investigation you want to do?
LFT
◦ Albumin 37 g/L
◦ Total bilirubin 11 µmol/L
◦ ALT 61 IU/L
◦ AST 17 IU/L
◦ ALP 123 IU/L
◦ GGT 56 IU/L
RFT
◦ Urea 3.7 µmol/L
◦ Creatinine 61 µmol/L
◦ Sodium 142 mmol/L
◦ Potassium 5.0 mmol/L
21. SHORT AND PLUMP – differentials diagnosis
Growth hormone deficiency
Hypothyroidism Cushing syndrome
• congenital or acquired ±
goiter
• Plump because of slow
metabolism
• Common causes: exogenous
steroid
22. SHORT AND PLUMP – investigations
Serum Growth Hormone
◦ during vigorous exercise
Insulin Like Growth Factor 1
Thyroid Function Test
◦ T4, TSH
Anti TPO
Serum cortisol level – diurnal cortisol
Dexamethasone suppression test
Bone Age – Left wrist X ray
MRI brain
◦ look at thalamus and pituitary gland
23. CASE SCENARIO (continued)
Growth hormone (GH) provocative tests confirmed severe growth hormone deficiency. MRI
pituitary showed empty sella. GH replacement therapy was initiated at the age of 7 years.
Diagnosis; growth hormone deficiency secondary to empty sella syndrome
• pituitary gland shrinks or becomes flattened, it cannot be seen on an MRI scan
• But the sella is not actually empty. It is often filled with cerebrospinal fluid (CSF).
• With empty sella syndrome, CSF has leaked into the sella turcica, putting pressure on the pituitary
gland. This causes the gland to shrink or flatten.
Original article.
http://www.jmems.org/index.php/jmems/article/viewFile/1/1
25. CASE SCENARIO
Aminah, 16 year old girl was brought to the clinic by her mother. Mother is worried because she
has not yet attained menarche. She has no known past medical history but mother complains
that she has always been shorter than her peers. Mother states that she is a little slow in studies
as she is in the last class. However, she is well behaved and she is the assistant class monitor. She
is also active in sports where she enjoys playing ping pong with her friends every Monday
afternoon.
OTHER SIMILAR CASE
http://www.hawaii.edu/medicine/pediatrics/pedtext/s15c03.html
26. VS BP 102/66 HR 80 RR 20 Height: 151 cm (<3rd percentile, correspond to 50th percentile of 12 y/o);
Maternal height: 163 cm; Paternal height: 171 cm. Weight: 53 kg (25th to 50th percentile), BMI: 23.
Breast bud and scanty pubic hair which correspond to Tanner stage 2.
Midparental height?
-CBC, ESR, TFT's, UA, and serum electrolytes are normal. Bone Age: 14.5 years old. Karyotype: 46 XX.
Aminah was eventually referred to the gynaecology clinic for her primary amenorrhea. U/S pelvis was
done, found small uterus with small gonads.
Another karyotype was done; 46 XX / 45 XO.
OTHER SIMILAR CASE
http://www.hawaii.edu/medicine/pediatrics/pedtext/s15c03.html
CASE SCENARIO
29. TURNER SYNDROME
Karyotype 45, XO
Clinical features
◦ Short stature
◦ ovarian dysgenesis
◦ Congenital lymphedema
◦ Short webbed neck
◦ Broad chect, wide space nipple, cubitus valgus
◦ Narrow hyperconvex nails
May be given growth hormone (and oestrogen
replacement if necessary at adolescence)
37. CASE SCENARIO
A mother gives birth to a 2.5kg baby boy. The birth was an uncomplicated spontaneous vaginal
delivery. On initial physical exam after birth, it is noticed that the baby has a large head,
extremely short stature, as well as shortening of both arms. The baby is also noticed to
have facial hypoplasia and a saddle nose. Prenatal genetic testing was not performed on
the couple. The father is of normal height, while the mother is slightly under average height at
120cm. The mother reports no drug or alcohol abuse during pregnancy. She took
appropriate prenatal vitamins throughout pregnancy. The remaining physical exam is
unremarkable.
38. ACHONDROPLASIA
is the most common form of short-limb dwarfism.
autosomal dominant trait
achondroplasia :"without cartilage formation“
cartilage is a tough but flexible tissue that makes up much of the skeleton during early
development.
however, in achondroplasia the problem is not in forming cartilage but in converting it to bone
(a process called ossification)
particularly in the long bones of the arms and legs
normal intelligence
39. CLINICAL FEATURES
disproportionate short stature
shortening of the arms and legs
a normal trunk length
midface hypoplasia
megalencephaly
prominent forehead (frontal bossing)
fingers are typically short and the ring finger
and middle finger may diverge, giving the hand
a three-pronged (trident) appearance.
40. Health problems :
-spinal stenosis, which is a narrowing of the spinal canal that can pinch (compress) the spinal
cord
- sleep apnea
- pain, tingling, and weakness in the legs that can cause difficulty with walking
-recurrent ear infections
-kyphosis, lordosis
-hydrocephalus
42. CASE SCENARIO
A 15-year-old male presents to his paediatrician with concerns regarding growth and
development.
He complains that he is shorter than all the other males in his class. He is an athlete
in his school and has good performance in class.
From the history, patient’s father was 165cm in secondary school and reached his
current height of 184cm when he was a junior in university.
Past medical history is unremarkable; patient has always been healthy. He eats well,
exercises, and has never had concerns about his growth in the past.
45. Birth History
◦ Gestational weight
◦ Birth weight
◦ Mode of delivery
◦ APGAR score
◦ Neonatal complications
Nutrition
◦ Appetite, energy, sleep, bowel habits
◦ Pattern of growth
Medical History
◦ Underlying illness
◦ Drug intake
◦ Irradiation
Family History
◦ Short stature
◦ Age of onset of puberty in family members of
the same sex
◦ Diseases in the family
46. PHYSICAL EXAMINATION
On physical exam, patient’s height is 157cm (~5th percentile), testicles
measure ~2.7cm, testis volume is 4ml and he has sparse lightly pigmented
pubic hair at the base of the penis.
Comment?
Positive family history
Shows sign of pubertal development
– testicular enlargement & Tanner stage 2
So this patient has delayed sexual development
49. INVESTIGATION
FBC
◦ Hb : 11.5 g/dL
◦ WBC: 9 x 10^9/L
◦ Platelet: 190 x 10^9/L
ESR : 3 mm/hr
RFT
◦ Urea : 4.2 mmol/L
◦ Creatinine : 56 mmol/L
NORMAL
What to do next ?
50. INVESTIGATION
Bone age
-radiograph of left wrist & hand
-correlates better with the stage of sex maturation than chronological
age
-delayed BA (>2SD below mean) that correlates with child’s height age
suggestive CDPG
-if BA reaches pubertal stage & normal LH, FSH – exclude hypogonadism
-Endocrinopathies – markedly delayed BA
51. CONSTITUTIONAL DELAY OF GROWTH
AND PUBERTY
CDGP is a condition in which temporary short stature occurs due to a delay in pubertal
development.
Diagnosis of exclusion
Management –
reassurance that puberty will progress normally
Exogeneous hormone to treat delayed puberty (The goals of therapy : to induce age-
appropriate secondary sexual characteristics and to induce a growth spurt without inducing
premature epiphyseal closure)
