Patient A-T, Consulted me at the age of 3 years 2 months
With Complaints of
- Breast Development
- Irritability.
- Rapid height gain
- Vaginal Discharge – Whitish.
Her height was 94 cm. Weight was 15.4 Kg.,
Mid Parental height 150 cm. (Father 163 cm. Mother 150 cm.)
- Pubertal status A-1, P-2, B-2
- Hypertricosis present.
- No goiter.
- No café au-lait-spots
- Fundus was Normal.
Investigations revealed following:
Observed Value (Normal Value)
FT-4 0.91 ng/dl. 0.7 – 1.85
TSH 2.28 uIU/ml. 0.3- 5.0
LH 0.20 miu/ml. ---
FSH 0.30 mIU/ml. ---
E 2 34 pg/ml. ---
Prolactin 14.40 ng/ml. 2-25 (Female)
Synactin Test.
0 hr 17 OHP 0.30 ng/ml.
60 min. 17 OHP 0.38 ng/ml.
Bone Age 6 years.
USG -
- Utero-cervical length 3.7 cm
- Ovaries small
- No Supra renal mass.
MRI –
- Normal pituitary Hypothalamic region
- Low lying cerebellar _____ (Tonsiler ectopia).
- Intra medullary csf Intensity cavity – Extending from C5 to D2 vertibral level s/o syringomyelia
Diagnosis –
- Precocious puberty
- Cerebellar Tonsillar ectopia with syringomyelia
Problem –
- Source of sex steroid causing precocious puberty could not be detected so following addition tests were performed at age of 3 year 6 months.
Additional Tests.
Observed Value (Normal Value)
- S. Cortisole – AM 218 1.10–200 ng/dl
- S. Androstenedione 0.27 0.47 – 2.68
- DHEAS <300 114 – 286 ng/ml
- IGF-1 level
- Free Testosterone 0.21 0.3 – 3.6 pg/ml.
- Progesterone 0.83 2.5- 25 ng/ml.
- GH- level
- Repeat USG abdomen-Uterus 3.3X1.6X2.3 cm.
On Follow up investigation were performed on follow Up visit at periodic intervals
Age 3yr8mth 4yrs 5yr 5yrs6mth 6yrs 7yrs.
LH 0.02 Ud - - - 7.0
FSH 0.03 ud - - 3.6
E2 16.5 22.0 25 - 68.
Prolactin 16.1 25.0 - 93.52 41.76 9.35
Bone Age 8yrs4m 10yr4m 12yr7m ---- 13yrs3m 13yrs4m
USG Pelvis Utero cervicle
Length
4.0cm.
transverse
2.3 cm.
A-P 1.7 cm.
Overies
Normal
in Size
Rt- 1.7 ml.
Lt.-2.1 ml.
Had menstrual cycle at age of 6 yrs.