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Normal height and novel mutations in growth hormone deficiency adults with pituitary stalk interruption syndrome.
- Source :
-
Neuro endocrinology letters [Neuro Endocrinol Lett] 2019 Dec; Vol. 40 (7-8), pp. 299-304. - Publication Year :
- 2019
-
Abstract
- Objective: Pituitary stalk interruption syndrome (PSIS) is a rare congenital disease which results in hypopituitarism. Patients with PSIS often exhibit short stature due to their deficiency of growth hormone (GH).<br />Case Presentation: Here, we present two rare cases of adults males with PSIS, in which the patients were of normal height and did not take any GH supplements. Sterility and multiple hormone deficiencies including GH were seen in both of them. Through whole exome sequencing of their DNA, we found novel mutations they shared, three in MUC4 (c.7815G>T, c.3548C>T, c.3399C>G) and one in NBPF10 (c.536C>A).<br />Conclusion: The present cases suggest that there are exceptions in GH deficient patients where a select few can attain normal heights without GH therapy. Genetic screening can be a predictor for prognoses of rare types of hypopituitarism.
- Subjects :
- Adolescent
Adult
Growth Disorders physiopathology
Humans
Hypogonadism drug therapy
Hypogonadism physiopathology
Hypopituitarism drug therapy
Hypopituitarism physiopathology
Hypothyroidism drug therapy
Hypothyroidism metabolism
Magnetic Resonance Imaging
Male
Mucin-4 genetics
Pituitary Gland diagnostic imaging
Body Height physiology
Growth Disorders metabolism
Hypogonadism metabolism
Hypopituitarism metabolism
Pituitary Gland abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 2354-4716
- Volume :
- 40
- Issue :
- 7-8
- Database :
- MEDLINE
- Journal :
- Neuro endocrinology letters
- Publication Type :
- Academic Journal
- Accession number :
- 32304364