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Short stature in a patient with familial glucocorticoid deficiency.
- Source :
-
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2011; Vol. 24 (7-8), pp. 569-71. - Publication Year :
- 2011
-
Abstract
- A 10.5-year-old Caucasian girl with familial glucocorticoid deficiency (FGD) is presented. She had a homozygous S74I mutation of the ACTH receptor and her parents were heterozygous for the same mutation. Around 4 years prior to the diagnosis of FGD, she was diagnosed with antibody positive primary hypothyroidism and was on thyroxin supplementation. FGD patients are considered to be tall. Our patient was only 146.5 cm (4' 9.25") tall at age 17 years (-2.21 standard deviations below the mean for her age). The possible mechanism for short stature in FGD is speculated.
- Subjects :
- Adrenal Insufficiency drug therapy
Adrenal Insufficiency genetics
Body Height drug effects
Child
Child Development drug effects
Family Health
Female
Hormone Replacement Therapy
Humans
Mutation
Thyroxine therapeutic use
Treatment Outcome
Adrenal Insufficiency complications
Adrenal Insufficiency congenital
Congenital Hypothyroidism complications
Glucocorticoids deficiency
Growth Disorders genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0334-018X
- Volume :
- 24
- Issue :
- 7-8
- Database :
- MEDLINE
- Journal :
- Journal of pediatric endocrinology & metabolism : JPEM
- Publication Type :
- Academic Journal
- Accession number :
- 21932602
- Full Text :
- https://doi.org/10.1515/jpem.2011.203