1. Diagnosis of Acromegaly
Patient no 52
A 31 years old female presents with enlargement of the jaw, hands, and feet, which result in increasing shoe and glove size and the need to enlarge finger rings. Her biochemical tests shows:
Urea: mmol/l ( mmol/l)
Creatinine: μmol/l ( μmol/l)
Fasting Plasma Glucose: mmol/L (<5.6 mmol/L)
a. What is the most likely biochemical diagnosis?
b. Name ONE laboratory investigation which can be most helpful in this patient
Acromegaly
IGF-1 (Glucose suppression test is contraindicated)
Ref No 5
Diagnosis of Acromegaly

2. Acromegaly
Clinical features of acromegaly are quite typical and are unmistakable.
In patients with active acromegaly, the most important first test is IGF-1
If IGF-1 is normal, no further test is required.
If IGF-1 is raised or equivocal, Glucose Suppression Test is carried out for confirmation.
In scenario, patient has severe hyperglycaemia and glucose suppression test is contraindicated unless glucose level is decreased

3. Patient no 53 Primordial Dwarfism Yes. There is growth failure
A 32 months old boy is being investigated for short stature. He was born prematurely at about 30th weeks' gestation. At birth, he was very small (1.7 kg) and measured 14 inches in length. His growth is fully formed and proportional except some microcephaly. On examination he was found to be < 1st percentile in height and weight. All his routine biochemical, endocrine and immunological tests were normal.
He underwent growth studies which revealed:
IgF1: Normal for age and sex
IgFBP3: Normal for age and sex
Growth Hormone (Basal): 4 ng/ml
Growth Hormone (after Insulin Stimulation Test): Normal response
What is the most probable diagnosis in this patient?
Is the ‘Growth Velocity’ low in such patients?
Primordial Dwarfism
Yes. There is growth failure
Ref No 8
Primordial Dwarfism

4. Primordial Dwarfism Common features:
Several poorly defined syndromes are grouped together in “Primordial Dwarfism”. Seckle Syndrome is the prototype
Common features:
Intra-uterine Growth Retardation or Small for Gestational Age is hallmark
Severe growth failure persists in post-natal life
Height percentile is very low (<3rd percentile)
There growth is generally proportional except microcephaly present in many cases
Growth Hormone studies are normal
Their may be anaemia or pancytopaenia

5. Primordial Dwarfs (From Abroad)

6. Primordial Dwarf (Reported in our Department)
Patient with our Registrar
Patient
Age: 9 years
Patient with his Father
Note: Pictures were taken after permission from father of the patient

7. Thalassemia and Aberrations of Growth and Puberty
Patient no 54
Two children with thalassemia major presented in a Growth Clinic:
A 7 years boy with height < 3rd percentile. Lab Tests showed:
IGF-1: Ug/L ( )
IGFBP-3: pg/ml (4567 – 8965)
Growth Hormone (GH) Stimulation Tests: Normal Response
A 13 years girl with height < 3rd percentile. Lab Tests showed:
IGF-1: (Ug/L ( )
GH Stimulation Tests: sub-normal Response
What are the causes of short stature in these two thalassemic children?
Name TWO hormones you will like to test in the girl.
1. GH insensitivity due to IGF defect. 2. GH def due to pituitary defect
FSH and LH
Ref No 9
Thalassemia and Aberrations of Growth and Puberty
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8. Short Statured Thalassemic Children
IGF-1 axis is affected earlier due to iron deposition
So GH insensitivity may be present in these children
Later in life iron deposition also starts in pituitary and other endocrine organs causing decrease GH secretion and puberty failure
Absence of sex steroid also causes short stature
Other factors include malnutrition and Vitamin D def