A 14-year-old boy presented with short stature and failure to develop secondary sexual characteristics. His height was significantly below average and he showed no signs of puberty. Tests found low levels of growth hormone, testosterone, and a relatively smaller pituitary gland on MRI. He was diagnosed with short stature and delayed puberty due to partial empty sella syndrome, where the pituitary gland is smaller and sits in an empty sella in the skull. The causes and further management plan were noted as problems to address.

1. A 14-YEAR-OLD BOY WITH SHORT
STATURE
PRESENTED BY:
DR. A.B.M. KAMRUL HASAN
MD FINAL PART (EM)
DEPARTMENT OF
ENDOCRINOLOGY
BSMMU

2. 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
characteristics.
sexual

3. 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

4. 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

5. 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

6. 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

7. 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

8. OK135S067

9. Mid-parental height



Father’s height: 156 cm (61.5 inches )
Mother’s height: 146 cm (57.5 inches )
Mid-parental height: 62 inches

10. DIFFERENTIAL DIAGNOSIS
Short Stature with Delayed Puberty
Due to 1. Constitutional Delay of Growth & Puberty
(CDGP)
2. Panhypopituitarism

11. INVESTIGATIONS
Name of the
investigation
Date
Result
Normal values
CBC
11.11.2013
Hb: 11.7 g/dL
ESR: 28 mm in 1st
hr
TC of WBC: 5.5X109
/L
DC of WBC: N 46%,
L 43%, M 07%, E
04%, B 00%
Hb: 13-17 g/dL
ESR: 0-10 mm in 1st
hr
TC of WBC: 411X109 /L
DC of WBC: N 4070%, 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

12. 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

13. 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
0.91 ng/ml
Male:
Prepubertal (Late):
0.1 – 0.2
ng/ml
Adult: 3 – 10 ng/ml
Serum
23.10.2013
Testosterone (Total)

14. 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

15. INVESTIGATIONS
(CONTD...)
Name of the
investigation
Date
Result
X-ray Skull both view
23.10.2013
Normal Findings
X-ray Left Hand for Bony 23.10.2013
Age
Bony age consistent with 8 – 9
years
MRI of Pituitary and
Hypothalamus
Partial empty sella with
relatively smaller pituitary
gland
10.11.2013

16. MRI of Pituitary and Hypothalamus

17. FINAL DIAGNOSIS

Short Stature with Delayed Puberty due to
Partial Empty Sella Syndrome

18. PROBLEM LIST


Cause of Empty Sella
Further plan of management

19. 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