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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
A rare case of Reifenstein's syndrome in two siblings
Asish Kumar Basu1, Goutam Guha, Sandipan Gupta
1Medical College, Kolkata 700073.
Abstract:
The conditions like gynaecomastia and hypospadius are not uncommon. Approximately 40% of normal men have palpable breast tissue. Hypospadius affects in excess of 1 in 300 boys. But the two conditions together occur very rarely and that too in the siblings. Two brothers in the same family of 16 and 14 years of ages reported with the complaints of bilateral gynaecomastia and hypospadius. USG of breasts of both the brothers revealed well developed duct system. LH, FSH, testosterone, oestradiol levels were within normal limits. Hypospadius was corrected by staged procedure. Gynaecomastia was treated by subcutaneous mastectomy. During 3-year follow-up they reported that their social life was restored, which was disturbed earlier.
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