A 14-YEAR-OLD BOY WITH SHORT STATURE
PRESENTED BY:
DR. A.B.M. KAMRUL HASAN
MD FINAL PART (EM)
DEPARTMENT OF ENDOCRINOLOGY
BSMMU
CASE SUMMARY
Md. SS, 14 years, Student, from B, got admitted in the department of Endocrinology of BSMMU on 19.10.2013 with the complaints of
Stunted growth since childhood and Failure to develop secondary sexual
characteristics.
CASE SUMMARY CONTINUED
Was alright till 2 years of age with normal developmental milestone
Failed to develop properly thereafter Has not developed any secondary sexual
characteristics No change of his clothing and shoe size
for last 9 years
CASE SUMMARY CONTINUED
No history of learning difficulty or mental retardation; anosmia or hyposmia; features suggestive of any chronic systemic illness
Suffered from diarrhea starting at his 1 month of age which persisted for about 1.5 year
CASE SUMMARY CONTINUED
Birth history was uneventful
His parents and elder sister had normal pubertal onset. His 2 sisters are of good health
No history of psychosocial disturbance
CASE SUMMARY CONTINUED
On examination, his body built is below average, height 106 cm (41.7 inches), weight 15 kg, arm span 106 cm, upper segment to lower segment ratio 0.96
Vital signs normal
No signs of malnutrition
CASE SUMMARY CONTINUED
Tanner stage G1genitalia, testicular volume 2 ml for both testes, small sized scrotum with no change of scrotal skin, Stretched Penile Length (SPL) 3.5 cm and Tanner stage P1 Pubic hair
His IQ appears to be normal
Other systems revealed no abnormality
OK135S067
Mid-parental height
Father’s height: 156 cm (61.5 inches ) Mother’s height: 146 cm (57.5 inches ) Mid-parental height: 62 inches
DIFFERENTIAL DIAGNOSIS
Short Stature with Delayed Puberty
Due to - 1. Constitutional Delay of Growth &
Puberty (CDGP) 2. Panhypopituitarism
INVESTIGATIONS
Name of the investigation
Date Result Normal values
CBC 11.11.2013
Hb: 11.7 g/dLESR: 28 mm in 1st hrTC of WBC: 5.5X109 /LDC of WBC: N 46%, L 43%, M 07%, E 04%, B 00%
Hb: 13-17 g/dLESR: 0-10 mm in 1st hrTC of WBC: 4-11X109 /LDC of WBC: N 40-70%, L 20-40%, M 2-8%, E 1-7%, B 0-2%
Urine RE 11.11.2013
Normal
Fasting plasma glucose
23.10.2013
4.0 mmol/L <6.1 mmol/L
Plasma glucose 2 hours after breakfast
23.10.2013
5.0 mmol/L <7.8 mmol/L
INVESTIGATIONS (CONTD...)
Name of the investigation
Date Result Normal values
Serum Creatinine
23.10.2013
0.5 mg/dL 0.6 - 1.3 mg/dL
Serum SGPT 23.10.2013
42 U/L 30 – 65 U/L
Serum Calcium 23.10.2013
8.5 mg/dL 9.0 – 11.0 mg/dL
13.11.2013
9.1 mg/dL 9.0 – 11.0 mg/dL
Serum ALP 30.10.2013
209 U/L 50 – 136 U/L
Serum Albumin 30.10.2013
41 gm/L 35 – 50 gm/L
Serum Inorganic Phosphate
30.10.2013
0.14 ng/ml 0.05 – 5.0 ng/ml
INVESTIGATIONS (CONTD...)
Name of the investigation
Date Result Normal values
Serum TSH 23.10.2013
4.83 mIU/L 0.47 – 5.01 mIU/L
Serum FT4 23.10.2013
13.43 pmol/L
9.14 – 23.81 pmol/L
Serum FSH 23.10.2013
2.38 IU/L Boys 14-17 years:0.4- 7.4 IU/L
Serum Testosterone (Total)
23.10.2013
0.91 ng/ml Male:Prepubertal (Late): 0.1 – 0.2 ng/mlAdult: 3 – 10 ng/ml
INVESTIGATIONS (CONTD...)
Name of the investigation
Date Result Normal values
Serum Growth Hormone (Basal)
23.10.2013 0.14 ng/ml 0.06 – 5.0 ng/ml
Serum Growth Hormone (Post Exercise)
02.11.2013 0.14 ng/ml
Serum Cortisol (Basal)
14.11.2013 268 nmol/L 138 – 690 nmol/L
Serum Prolactin 14.11.2013 6.26 ng/ml Adult male: 2.5 – 17 ng/ml
INVESTIGATIONS (CONTD...)
Name of the investigation
Date Result
X-ray Skull both view 23.10.2013
Normal Findings
X-ray Left Hand for Bony Age
23.10.2013
Bony age consistent with 8 – 9 years
MRI of Pituitary and Hypothalamus
10.11.2013
Partial empty sella with relatively smaller pituitary gland
MRI of Pituitary and Hypothalamus
FINAL DIAGNOSIS
Short Stature with Delayed Puberty due to Partial Empty Sella Syndrome
PROBLEM LIST
Cause of Empty Sella Further plan of management
ACKNOWLEDGEMENT
Prof. Md. Fariduddin Chairman & Course Co-ordinator,
Department of Endocrinology, BSMMU Dr. M.A. Hasanat Associate Prof,
Department of Endocrinology, BSMMU All the colleagues of my
department