Clinical Presentation of Congenital Hypopituitarism: Lessons From a Large Academic Centre
Authors' conclusion
Individuals with cMPHD were more likely to be identified earlier and present with hypoglycemia than those with cIPHD. As the majority with cIPHD evolved to cMPHD, close monitoring is necessary to facilitate timely detection and treatment of evolving hormone deficiencies.
Study context
- Population
- Children ≤ 3 years old with abnormal brain/pituitary imaging and ≥ 1 pituitary hormone deficiency, single academic centre
- Participants
- 56 children
- Exposure
- Congenital isolated pituitary hormone deficiency (cIPHD) vs congenital multiple pituitary hormone deficiency (cMPHD) at presentation
- Outcome
- Age at initial endocrine consultation
Methodological detailssingle-centre, retrospective chart review
- Single-centre
- Retrospective chart review
Main finding
As reported in the abstract
cIPHD
62.5
median · IQR 7.3–240.8 · days
cMPHD
10.0
IQR 6.3–26.5 · days
P = 0.02
Observational data: associations, not effects.
Further findings
Presentation type
- Reason for consultation (e.g., abnormal imaging or hypoglycemia) · associated with presentation as cIPHD or cMPHD
- P = 0.01
- cIPHD progressed to multiple hormone deficiencies · by 3 years of age
- 65.4%
Most common deficiency at presentation
- cIPHD: AVP deficiency
- 34.6%
- cMPHD: combined ACTH and TSH deficiencies
- 43.3%
Original publication
Clinical Presentation of Congenital Hypopituitarism: Lessons From a Large Academic Centre. Clin Endocrinol (Oxf). Published 4 February 2025. doi:10.
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