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Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in
Insights
Mutations in the PROP-1 gene cause combined pituitary hormone deficiency. Even with sporadic treatment, individuals achieved near-normal final height, with growth continuing into adulthood.
Area of Science:
- Endocrinology
- Genetics
- Pediatric Endocrinology
Background:
- Prophet of PIT-1 (PROP-1) gene mutations are linked to combined pituitary hormone deficiency.
- PROP-1 is crucial for early embryonic pituitary development.
Observation:
- Two families with PROP-1 mutations exhibited complete deficiencies in growth hormone (GH), thyroid-stimulating hormone (TSH), prolactin (PRL), luteinizing hormone (LH), and follicle-stimulating hormone (FSH).
- ACTH deficiency manifested later, in the third or fourth decade of life.
- Pituitary MRI revealed varied findings, including empty sella and tissue accumulation.
Findings:
- Continuous hormone replacement therapy in one patient led to achieving familial target height.
- Sporadic GH treatment in other patients resulted in lower normal final height.
- Longitudinal growth persisted until age 40 in some individuals.
Implications:
- This study highlights the long-term growth potential in PROP-1 deficiency.
- It underscores the importance of monitoring for ACTH deficiency and considering growth patterns in affected individuals.
- Optimal therapeutic strategies for PROP-1 mutations may require individualized long-term management.
Background:
Mutations of the prophet of PIT-1 (PROP-1), a paired-like homeodomain transcription factor which is responsible for early embryonic pituitary development, have recently been reported as a cause of combined pituitary hormone deficiency.
Methods:
We describe the phenotype, long-term auxological data and MRI findings in two families with 4 affected members, all of whom have a mutation of the PROP-1 gene. GH, TSH, PRL, LH and FSH were completely deficient in all patients.
Results:
ACTH deficiency was not diagnosed until the 3rd or 4th decades of life. Pituitary MRI showed an empty sella in 2 subjects, but unspecific tissue accumulation resembling a pituitary mass lesion in another patient. The affected boy from family II who was continuously treated with all the necessary hormones reached the familial target height. However, the 3 subjects in family I were only treated sporadically (GH treatment lasting from 1 to 3 years).
Conclusion:
Despite this insufficient therapy, final height was in the lower normal range. Longitudinal growth continued up to the age of 40 years in these subjects.
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