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.
Published Online: 2011-08-01
Published in Print: 2011-08-01
©2011 by Walter de Gruyter Berlin Boston
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Keywords for this article
familial glucocorticoid deficiency;
primary hypothyroidism;
short stature
Articles in the same Issue
- Editorial
- Pitfalls for bone age measurement
- Bone disease and cytokines in idiopathic hypercalciuria: a review
- Cord blood adiponectin and infant growth at one year
- Plasma visfatin and adiponectin concentrations in physically active adolescent girls: relationships with insulin sensitivity and body composition variables
- Gender differences exist in the association of leptin and adiponectin levels with insulin resistance parameters in prepubertal Arab children
- Development and linear growth in diabetic children receiving insulin pigment
- Genotypes of p53 codon 72 correlate with age at onset of type 1 diabetes in a sex-specific manner
- A prospective clinical pilot-trial comparing the effect of an optimized mixed diet versus a flexible low-glycemic index diet on nutrient intake and HbA1c levels in children with type 1 diabetes
- Low-dose insulin therapy in patients with cystic fibrosis and early-stage insulinopenia prevents deterioration of lung function: a 3-year prospective study
- Short communication
- Italian pediatric data support hypothesis that simultaneous epidemics of type 1 diabetes and type 2 diabetes/metabolic syndrome/obesity are polar opposite responses (i.e., symptoms) to a primary inflammatory condition
- Adult height after growth hormone treatment in Japanese children with idiopathic growth hormone deficiency: analysis from the KIGS Japan database
- Growth patterns of large, small, and appropriate for gestational age infants: impacts of long-term breastfeeding: a retrospective cohort study
- Body image and sexual interests in adolescents and young adults with Prader–Willi syndrome
- Growth hormone secretory pattern in non-obese children and adolescents with Prader-Willi syndrome
- The effect of corrective surgery on serum IGF-1, IGFBP-3 levels and growth in children with congenital heart disease
- Patient preference for a new growth hormone injection device: results of an open-label study in Japanese pediatric patients
- DXA surrogates for visceral fat are inversely associated with bone density measures in adolescent athletes with menstrual dysfunction
- Evaluation of bone density in girls with precocious and early puberty during treatment with GnRH agonist
- Comparative analysis of clinical, biochemical and genetic aspects associated with bone mineral density in small for gestational age children
- Outcome of gonadotropin-releasing analog treatment for children with central precocious puberty: 15-year experience in southern Thailand
- Ovarian function in adolescents with McCune-Albright syndrome
- Hypothalamic-pituitary-adrenal axis suppression in asthmatic children on inhaled and nasal corticosteroids – more common than expected?
- Clinical characteristics of adrenocortical tumors in children
- Preimplantation genetic diagnosis (PGD) – prevention of the birth of children affected with endocrine diseases
- The usefulness of ultrasound in follow-up of a patient with dyshormonogenetic congenital hypothyroidism
- Accelerated carpal bone maturation in juvenile idiopathic arthritis: pitfall for bone age measurement
- Case reports
- Hypokalaemic paralysis in a 15-year-old boy with 11β-hydroxylase deficiency
- Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy
- Continuous subcutaneous hydrocortisone infusion (CSHI) in a young adolescent with congenital adrenal hyperplasia (CAH)
- Causes and consequences of abandoning one-stage bilateral adrenalectomy recommended in primary pigmented nodular adrenocortical disease – case presentation
- Short stature in a patient with familial glucocorticoid deficiency
- Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome
- Entire prophet of Pit-1 (PROP-1) gene deletion in an Indian girl with combined pituitary hormone deficiencies
- Diabetes in young – unusual case presentation
- Patient reports
- Two cases of 22q11.2 deletion syndrome with anorectal anomalies and growth retardation
- A 3-year-old boy with ovotestes: gender reassignment and surgical management
- Case reports
- A 5-year-old boy with atrophic autoimmune thyroiditis caused by thyroid-stimulation blocking antibodies
- Small nuclear ribonucleoprotein polypeptide N quantitative methylation analysis in infants with central hypotonia
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
- Pulmonary hypertension and reopening of the ductus arteriosus in an infant treated with diazoxide
- Commentary
- Using genetic tests for talent identification in sports: too soon to be true
- Letter to the Editors
- Insulin resistance and the metabolic syndrome in obese children
- Graves’ disease in a Down’s syndrome patient responds well to radioiodine rather than antithyroid drugs
- Aortic intima-media thickness and lipid profile in neonates born to mothers with pre-eclampsia: weak or strong relations?
- Meetings
- Meetings Calendar