Table 4. [Treatment of Manifestations in Individuals with Perrault Syndrome]. - GeneReviews®

Manifestation/ Concern	Treatment	Considerations/Other
Hearing loss	Possible interventions: Hearing aids Vibrotactile devices Cochlear implantation ¹	Assessment & treatment by multidisciplinary team incl: audiologist, otolaryngologist, speech therapist Provide for any special educational needs. Early intervention in young children w/profound hearing loss improves cognitive & language development.
Ovarian insufficiency	In adolescents presenting w/primary amenorrhea, induction of puberty w/incremental doses of estrogen	In consultation w/pediatric endocrinologist If puberty is complete, administer cyclic estrogen & progesterone to mimic menstrual cycle & trigger withdrawal bleeding. Estrogen replacement therapy (if no contraindications) until age ≥50 yrs to ↓ risks of cardiovascular disease & osteoporosis
Assisted reproduction through in vitro fertilization	For women w/gonadal dysgenesis: consider assisted reproduction through in vitro fertilization using donor eggs. For women at risk for ovarian insufficiency: consider oocyte cryopreservation if ovarian function is sufficiently well preserved to allow for successful harvesting of oocytes. Consider use of donor eggs. Before considering pregnancy, assess uterine size.

Manifestation/
Concern

Treatment

Considerations/Other

Hearing loss

Possible interventions:

Hearing aids
Vibrotactile devices
Cochlear implantation ¹

Assessment & treatment by multidisciplinary team incl: audiologist, otolaryngologist, speech therapist
Provide for any special educational needs.
Early intervention in young children w/profound hearing loss improves cognitive & language development.

Ovarian insufficiency

In adolescents presenting w/primary amenorrhea, induction of puberty w/incremental doses of estrogen

In consultation w/pediatric endocrinologist
If puberty is complete, administer cyclic estrogen & progesterone to mimic menstrual cycle & trigger withdrawal bleeding.
Estrogen replacement therapy (if no contraindications) until age ≥50 yrs to ↓ risks of cardiovascular disease & osteoporosis

Assisted reproduction through in vitro fertilization

For women w/gonadal dysgenesis: consider assisted reproduction through in vitro fertilization using donor eggs.
For women at risk for ovarian insufficiency: consider oocyte cryopreservation if ovarian function is sufficiently well preserved to allow for successful harvesting of oocytes.
Consider use of donor eggs.
Before considering pregnancy, assess uterine size.

From: Perrault Syndrome

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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