non-acquired combined pituitary hormone deficiency with spine abnormalities
Findings
No curated finding names non-acquired combined pituitary hormone deficiency with spine abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.
Definition from the Mondo Disease Ontology (MONDO:0009091), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anterior pituitary hypoplasiaHPOHP:0010627
- Very frequent (80% to 99% of cases)
- Decreased response to growth hormone stimulation testHPOHP:0000824
- Very frequent (80% to 99% of cases)
- Gonadotropin deficiencyHPOHP:0008213
- Very frequent (80% to 99% of cases)
- Hypothalamic luteinizing hormone-releasing hormone deficiencyHPOHP:0012287
- Very frequent (80% to 99% of cases)
- Pituitary hypothyroidismHPOHP:0008245
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LHX3HGNC:6595
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: non-acquired combined pituitary hormone deficiency with spine abnormalities
- Also called
- non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndromepituitary hormone deficiency, combined, type 3