This is a case of a 33 year old male who was fine until the age of 6 months when he got his first seizure attack and after consultation with a doctor, he started taking gardenal (Phenobarbital)- 1/2 tablet and then 300 for the next years. He was completely alright until the age of 9 years when he again got that seizure attack and moved to PG hospital where he got continued treatment for next 3 years. He also has a history language delay. From his childhood, he is very obese (not sure if it's overweight or obese) even with lack of appetite. He had jaundice thrice at the age of 8 and got operated for gallbladder in 2012. That time doctor also told him her penis is smell and has reduced sexual desire.Since then he is taking medicines for 5 years and not getting any notion of improvement.
His mother during the 7 months of second pregnancy was fell down without any obvious injury, and gave birth to this second child with normal delivery and everything was fine until the age of 6 months when he got his first seizure attack. Her first girl was died during the infancy due to unknown cause (first pregnancy).
In Nutshell:
Seizure>>phenobarbital>>obese>language delay>jaundice and gall bladder operation>> small penis and reduced sexual desire AND seeking helplessly better treatment after losing hope AND above all, fall during pregnancy and first child death of unknown cause.
Past medical records with Bangla history narratives are attached below followed by the extra data that has been collected from the patient face to face yesterday as shared in the images below at the bottom:
Mirror link: https://736146.blogspot.in/2017/11/patient-name-pederomia-pellucida-l-3.html?m=1
Recent story:
The extra points that we noted from our face to face encounter was that the patient's penile length may just be a function of his trunkal obesity (it appears as a clitoris but once we push back the fat it appears to be relatively ok) and the real requirement from this patient's mother is that we ensure that he may be able to procreate reasonably after marriage and we are still wondering how to match him in terms of his pharmacological intervention (he has been started on injection testosterone in IPGMER, Kolkata that has just succeeded in increasing his muscle mass (and perhaps this is preventing his diabetes inspite of the overt trunkal obesity? A new out of the box approach to manage diabetes?), the testosterone may not be helping much?
Discussions around this case:
Vivek: Phenobarbital can reduce testosterone level. Seizure>>phenobarbital>>obese>language delay>jaundice and gall bladder operation>> small penis and reduced sexual desire AND seeking helplessly better treatment after losing hope AND above all, fall during pregnancy and first child death of unknown cause.
"AEDs like phenobarbitals, phenytoin and carbamazepine are liver enzyme inducer increases serum sex hormone binding globulin (SHBG) concentrations in both men and women with epilepsy.Over time the increase in serum SHBG levels leads to diminished bioactivity of testosterone and estradiol, which may result in diminished potency in men and menstrual disorders in some women, and, thus, to reduced fertility" https://www.ncbi.nlm.nih.gov/pubmed/18164216
The problem is somewhere in the hypothalamic–pituitary–gonadal axis? Any genetic syndromes? hypothyroidism? Her EEG impression is diffuse encephalopathies. His FSH, LH level could be decreased due to any cause?
Dr. Rakesh: Yes generally testicular failure should cause increased LH and FSH. Reduction may suggest hypothalamo pituitary failure? Can we look up the literature around epilepsy and hypothalamo pituitary failure?
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