MDP Syndrome

MDP Syndrome (Mandibular hypoplasia-deafness-progeroid syndrome) is an intersex condition that effects both CTF and CTM individuals alike.

For CTM individuals, symptoms include absent or undescended testicles, AMAB hypogonadism, and possibly aromatase excess syndrome due to the lack of testosterone. This may cause low muscle tone, low hair growth, and possibly feminine traits within these individuals

For CTF individuals, symptoms include AFAB hypogonadism, and possibly hyperandrogenism due to the lack of estrogen. This may cause a lack of breast growth and possibly masculine traits within these individuals.

In both CTF and CTM individuals, common symptoms include deafness or low hearing, low fat, tight skin, a small lower jaw, insulin resistance, diabetes, an enlarged liver, flexed joints, dental crowding, and possibly a beaked nose.

Causes

This condition is caused by a single codon deletion the POLD1 gene, a gene that codes proteins and is present in all cells. This change can cause development in every cell to be different or impaired, causing the many symptoms listed above.

History

MDP syndrome was first described in 2010 when seven cases were reported by a group from Texas, USA.

Resources