Overview
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (Orphanet code 231720) is an extremely rare genetic disorder characterized by the combination of congenital combined pituitary hormone deficiency (CPHD), sensorineural hearing loss, and vertebral/spine abnormalities. This syndrome has also been associated with mutations in the LHX3 gene (or related transcription factor genes involved in pituitary development), which plays a critical role in the development of the pituitary gland, the inner ear, and the spine during embryonic life. The pituitary hormone deficiency component means that the pituitary gland fails to produce adequate amounts of multiple hormones, which may include growth hormone (GH), thyroid-stimulating hormone (TSH), luteinizing hormone (LH), follicle-stimulating hormone (FSH), prolactin, and adrenocorticotropic hormone (ACTH). This leads to growth failure, hypothyroidism, delayed or absent puberty, and potentially life-threatening adrenal insufficiency. Sensorineural hearing loss, which can range from mild to profound, results from abnormal development of the inner ear structures. Spine abnormalities may include a rigid cervical spine with limited neck rotation, short neck, or vertebral anomalies. Onset is typically in the neonatal or early childhood period, when growth failure and hormonal deficiencies become clinically apparent. Treatment is primarily supportive and involves lifelong hormone replacement therapy tailored to the specific deficiencies identified, including growth hormone, thyroid hormone, sex steroids, and glucocorticoids as needed. Hearing aids or cochlear implants may be required for the hearing loss component. Orthopedic monitoring and management may be necessary for spinal abnormalities. Early diagnosis and comprehensive endocrine management are essential to optimize growth, development, and quality of life.
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Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
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Common questions about Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
What is Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome?
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (Orphanet code 231720) is an extremely rare genetic disorder characterized by the combination of congenital combined pituitary hormone deficiency (CPHD), sensorineural hearing loss, and vertebral/spine abnormalities. This syndrome has also been associated with mutations in the LHX3 gene (or related transcription factor genes involved in pituitary development), which plays a critical role in the development of the pituitary gland, the inner ear, and the spine during embryonic life. The pi
How is Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome inherited?
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome typically begin?
Typical onset of Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is neonatal. Age of onset can vary across affected individuals.