Symptoma

Familial Glucocorticoid Deficiency

We report a patient with an atypical initial presentation of this condition. Our patient differed from the typical presentation by having late age of onset, short stature, and few symptoms of FGD. [ncbi.nlm.nih.gov]

Clinical description FGD usually presents in infancy or early childhood with hyperpigmentation of the skin and gums (present at birth or that develops over time), hypoglycemic seizures and failure to thrive. [orpha.net]

  • Tall Stature

    We suggest that mutation analysis of the ACTH receptor gene be considered in children with clinical features of FGD and tall stature. [ncbi.nlm.nih.gov]

    Tall stature in familial glucocorticoid deficiency. Clinical Endocrinology, 53 (4), 423-430. [moh-it.pure.elsevier.com]

  • Camping

    Functional studies of these mutations as well as the S120R mutation were performed after stable transfection of M3 cells and measurement of ACTH-induced cAMP production. [ncbi.nlm.nih.gov]

    This is the first demonstration that both AP-1 and SF-1 are required for the cAMP-dependent induction of human ACTHR gene [14]. [wikigenes.org]

  • Cerebral Palsy

    Family history revealed a sister aged 22 years with cerebral palsy and a healthy 15-year-old brother, who were both severely pigmented with high ACTH levels. [ncbi.nlm.nih.gov]

  • Regurgitation

    Other presenting features include recurrent hypoglycemia, feeding problems, regurgitation, failure to thrive and severe infections ( 3, 4 ). In newborns, symptoms of hypoglycemia can be subtle, so a high index of suspicion is needed ( 3 ). [synapse.koreamed.org]

    […] resemble those of Addison's disease, and in some patients this may be the first diagnosis. 6 However, unlike classical Addison's disease, patients with FGD never develop mineralocorticoid deficiency. 6 Other presenting features include feeding problems, regurgitation [nature.com]

  • No Pubic Hair

    Ishii et al.[ 18 ] report a FGD patient with sparse pubic hair in adulthood despite normal progression in puberty and regular menses, demonstrating the importance of ACTH in the induction and subsequent maintenance of adrenarche and pubic hair attainment [karger.com]

    Both boys underwent normal pubertal development: II:1 began his puberty age 12 yr and at 15 yr he had Tanner V pubic hair and 20 ml testes, and sibling II:2 had Tanner I pubic hair and 6 ml testes bilaterally at 12 yr. [doi.org]

  • Learning Difficulties

    The condition is potentially fatal if left untreated and in the long term recurrent hypoglycaemia can lead to learning difficulties in addition to other neurological sequelae. [exeterlaboratory.com]

    If left untreated, hypoglycemia can lead to seizures, learning difficulties, and other neurological problems. Hypoglycemia that is left untreated for prolonged periods can lead to neurological damage and death. [ghr.nlm.nih.gov]

    The long-term neurological consequence of FGD can vary from learning difficulties to spastic quadriplegia, which may reflect the severity and number of hypoglycaemic episodes during childhood [ 11 ]. [karger.com]

  • Spastic Quadriplegia

    The long-term neurological consequence of FGD can vary from learning difficulties to spastic quadriplegia, which may reflect the severity and number of hypoglycaemic episodes during childhood [ 11 ]. [karger.com]

  • Neurologic Manifestation

    This would include progressive neurological manifestations (triple A, adrenoleucodystrophy), ambiguous genitalia (congenital adrenal hyperplasia, CAH), other dysmorphic features (IMAGe), hypogonadism, delayed puberty (congenital adrenal hypoplasia), alacrima [karger.com]

MIGEON SYNDROME Francescato G, A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workup, 2012 et al. [metagene.de]

Patient’s mother also noticed same increased pigmentation on genitals of her nephew; his lab workup was consistent with isolated glucocorticoid deficiency and was started on steroid replacement. [bmcendocrdisord.biomedcentral.com]

Autoimmune workup If the diagnosis of Addison’s appears to be a part of a larger autoimmune pathology, one should include a workup for other endocrine gland dysfunctions. [pedclerk.bsd.uchicago.edu]

Prompt and adequate treatment of a hypoglycemic crisis is essential. Treatment is life-long. Prognosis The prognosis is good for patients who are diagnosed and treated early. [orpha.net]

Empirical treatment with hydroxycobalamin (1000 micrograms three times a week) and folinic acid (15 mg/day) was without clinical effect. [ncbi.nlm.nih.gov]

Prognosis The prognosis is good for patients who are diagnosed and treated early. Only when left untreated is FGD a disease with high morbidity (neurological sequelae) and mortality. [orpha.net]

Prognosis The prognosis is good for patients who are diagnosed and treated early. Only when left untreated is FGD a disease with high morbidity (neurological sequelae) and mortality. Last updated: 4/28/2015 [rarediseases.info.nih.gov]

Prognosis - ACTH resistance Not supplied. [checkorphan.org]

OBJECTIVE: We hypothesized that other components of mitochondrial antioxidant systems would be good candidates in the etiology of FGD. [ncbi.nlm.nih.gov]

Etiology FGD is due, in most cases, to defects in the adrenocorticotropin (ACTH) receptor, or its signaling pathway, resulting in a failure of the cells of zona fasciculata in the adrenal cortex to respond appropriately to adrenocorticotrophic hormone [orpha.net]

Summary Epidemiology The prevalence is unknown. In Ireland there is a prevalence of around 1/200,000, but this is likely to be skewed by a high prevalence in the Irish Traveler sub-population. [orpha.net]

Epidemiology The prevalence is unknown. In Ireland there is a prevalence of around 1/200,000, but this is likely to be skewed by a high prevalence in the Irish Traveler sub-population. [rarediseases.info.nih.gov]

Relevant External Links for MRAP Genetic Association Database (GAD) MRAP Human Genome Epidemiology (HuGE) Navigator MRAP Atlas of Genetics and Cytogenetics in Oncology and Haematology: MRAP No data available for Genatlas for MRAP Gene Mutations in MRAP [genecards.org]

Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices. [books.google.ro]

View Article Google Scholar Reidy K, Kaskel FJ: Pathophysiology of focal segmental glomerulosclerosis. Pediatr Nephrol. 2007, 22 (3): 350-354. 10.1007/s00467-006-0357-2. [bmcendocrdisord.biomedcentral.com]

The above pathophysiologic mechanisms are in action in patients with the syndrome of 11β-HSD type 1 deficiency ( 13 ). In these patients, the compensatory increase of adrenal function is generally small, resulting primarily in mild hyperandrogenism. [pnas.org]

Predominant sex: females and children males (slight) No racial predilection Incidence 0.6/100,000 Prevalence 40 to 60 cases in 1 million population Etiology and Pathophysiology Autoimmune adrenal insufficiency ( 80% in United States) Infectious causes [unboundmedicine.com]

The pathophysiology of this is not yet clear. It involves reduction in the production of glucocorticoids as well as reduced effect. [patient.info]

The clinical implications of these findings include: facilitation of antenatal genetic diagnosis, early institution of potentially lifesaving therapy, and the possibility of preventative or curative intervention. [ncbi.nlm.nih.gov]

GPXs and PRDXs work simultaneously to reduce H2O2, preventing cellular damage. [qmro.qmul.ac.uk]

Prevention - ACTH resistance Not supplied. Diagnosis - ACTH resistance Not supplied. Prognosis - ACTH resistance Not supplied. [checkorphan.org]

Maintenance of triglyceride levels below 22,6 mmol/L (2000 mg/dL) prevents in general from recurrent abdominal pain. [en.wikipedia.org]

Conclusion: Glucocorticoids replacement with optimum dose is necessary in FGD to promote physical and neurological growth and to prevent adrenal crises, hypotension, hypoglycemia, and sudden death. [e-ijd.org]