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]

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]

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]

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]

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]

A characteristic facial appearance including hypertelorism, marked epicanthic folds and prominent frontal bossing was noted. [ncbi.nlm.nih.gov]

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]

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]

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]