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Pituitary function in 8 patients with familial pituitary dwarfism
Helvetica Paediatrica Acta
|November 1, 1981
Summary
Familial multiple pituitary hormone deficiency (MPHD) shows varied hormone deficits across families. This suggests genetic and pathway diversity in familial dwarfism, impacting pituitary function differently.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Familial multiple pituitary hormone deficiency (MPHD) presents a diagnostic challenge due to potential intrafamilial and interfamilial variability.
- Understanding the pattern of hormone deficiency is crucial for accurate diagnosis and management of familial dwarfism.
Purpose of the Study:
- To investigate the patterns of hormone deficiency in familial multiple pituitary hormone deficiency (MPHD).
- To determine if distinct intrafamilial or interfamilial patterns of pituitary hormone deficiency exist.
Main Methods:
- Evaluated pituitary function in four families with familial MPHD.
- Stimulation tests included gonadotropin-releasing hormone (GnRH) for FSH/LH, thyrotropin-releasing hormone (TRH) for TSH, L-dopa for growth hormone (GH), and sulpiride for prolactin.
- Assessed basal levels of ACTH and cortisol over two consecutive days.
Main Results:
- All patients exhibited multiple pituitary hormone deficiency (MPHD), with absent or blunted responses in FSH, LH, and GH to stimulation.
- TSH responses to TRH varied, with some showing normal, exaggerated, or diminished responses.
- ACTH and cortisol levels showed variability, with some patients presenting low basal levels.
Conclusions:
- The lack of a consistent pattern of hormone deficiency across families indicates heterogeneity in familial MPHD.
- Familial MPHD likely represents a genetically and pathogenetically diverse group.
- Variability in expression of hypothalamo-pituitary defects contributes to the diverse clinical presentations.