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.

Authors

Mathew RP, Kovacs WJ

Institution

Division of Pediatric Endocrinology, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN 37232-9170, USA. revi.mathew@vanderbilt.edu

Source

Journal of pediatric endocrinology & metabolism : JPEM 24:7-8 2011 pg 569-71

MeSH

Adrenal Insufficiency
Body Height
Child
Child Development
Congenital Hypothyroidism
Family Health
Female
Glucocorticoids
Growth Disorders
Hormone Replacement Therapy
Humans
Mutation
Thyroxine
Treatment Outcome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21932602