Thursday, 12 May 2016

Two cases of precocious puberty- Case 2


Second case of precocity was a ten and half year old boy, second child born to an elderly couple (36 year old mother and 44 year old father). Older girl child 17 years is normal and healthy. This boy born preterm at eight month with normal delivery with birth weight of 2 kg. Not asphyxiated, no neonatal problems in the form of hypoglycemia, jaundice, infections. All his milestones were normal (correction for prematurity at earlier ages), catch up growth in all parameters normal . He was normal in studies. 
There was no family history relevant for such a case (please refer to the previous case)
When he was seven years old, one day he came back from school telling that his classmates laughed at him as he had moustache. Parents also noticed hair growth on upper lips. He was taken to an endocrinologist . His growth parameters were normal, he had some hair growth at the pubic area.

They did not have a documentation( it is better to take a photograph for later comparison in such cases ). His bone age was normal for his age. Ultrasonogram abdomen was normal.
FSH and LH showed upper limit of normal. But the ratio was normal . 
He was under regular follow up then, without any intervention.
Now, for the last three months, parents noticed that the pace of the pubic hair growth is increasing. 
Other than this observation he did not have any problems, goes to school and is good in his studies. No head ache, visual problems or any other system problems 

O/E 

Vitals stable .
Height normal for age (no advancement in height )
Weight a bit lower for age 
No neurocutaneus markers . 
He is fair .
Genital examination showed G3. No axillary hair, no facial hair 
Testes size is normal

(upto 3 ml  pre -pubertal )
Stretched penile length normal 

So, what are the points to be remembered here ?
Boy with some features of precocity ( At the age of seven, parents noticed hair growth on face and to some extent genitals, but it was not progressing significantly for the last 3 years. Now he is ten and half years. Onset of sexual hair at this age is normal, but not G3.
Here, testicular volume estimation is crucial. In central precocity, first sign will be enlargement of testes. Here interestingly Testicular volume is normal. But genital hair is advanced.
Peripheral reasons for precocity ie, adrenal, ovarian, testicular or exogenous androgenic source cause advance in sexual maturity in boys mainly in the form of sexual hair, penile length and other features like muscularity,nchange in voice, advancement of height etc.
So here, height is not advanced, sexual hair is advanced, but testes and  stretched penile length normal . USG abdomen done and is normal . 
Questions: 
1. Is there any organic cause underlying or is it just a normal variant? If we consider the onset at seven and half, we should consider pathological causes. But, it did not progress till recently till ten and half year , So ?
2. If we consider pathological causes, is it central or peripheral? The absence of tesicular volume increase argue again it being of central type. But, the commonest reason for peripheral isosexual precocity is virilising adrenal hyperplasia milder variants. But, there is no pigmentation, stretched penile length normal ,  no advancement in height .
The following investigations were planned( in view of the above confusion )

  • Bone age
  • X-ray hands and elbow
  • Cortisol ( one random sample when we take the other test .knowing the limitations)
  • Electrolytes sodium and potassium 
  • FSH and LH 

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Our thoughts, analysis and decisions may be wrong. Hope, experts in this area may have different views . Let us hear .

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