Dear colleague,
I meet for the first time Mr. Nate REDUIO, born on 03/02/1995, for an etiological assessment of sensorineural hearing loss.

Family history:
Mr. REDUIO is an only child. He has no children but has a short-term parental project, which also motivated this consultation.
Mr. REDUIO has been adopted; he does not know his biological family.

Personal history:
We do not have information on the prenatal and perinatal period, or on the history before the adoption at 2 years. The hearing loss is presumably congenital. It is certainly prelingual and is bilateral, severe, symmetric, and stable.
Mr. REDUIO also presents moderate myopia and supplemented hypothyroidism, diagnosed 2 years ago.
He had a normal schooling, up to a bachelor's degree. He works in telemarketing. He does not play sports and reports being easily short of breath.

Clinical examination (30 years):
Height -3 SD, weight M, head circumference -1 SD. Pretragial tag on the right. Pits in the neck, as well as on the lower lip. Hypertelorism. Systolic murmur on auscultation. Pulmonary auscultation without particularities. Skin examination without particularities.

Complementary assessments:
MRI and CT scan of the temporal bones: dilation of the vestibular aqueduct, bilateral.
Given this hearing loss which is both malformative and syndromic, there is likely a genetic etiology to be identified. The risk of recurrence in his offspring will depend on the identified cause. If it is an autosomal dominant condition, the risk will be 50%. If it is a recessive condition, the risk of recurrence in the offspring will probably be low, as his partner is not related to him and does not present any particular medical history.
Following the consultation, Mr. REDUIO is therefore sampled for the genetic deafness panel, which will be performed in our molecular genetics laboratory. I will return to him with the results of this examination.
I also refer him to cardiology for assessment and echocardiogram, given the murmur.

Conclusion:
Prelingual sensorineural hearing loss, malformative and syndromic (hypothyroidism, dysmorphia), probably genetic. Genetic explorations in progress.
Best regards.