Table 2 Clinical signs of glucocorticoid resistance in previously reported cases

Chrousos et al. 1982 [8]

Male

c.2054A > T, D641V

hypertension, hypokalemia

Brönnegard et al. 1986 [17]

Female

NA

fatigue

Karl et al. 1993 [18]

Female

4 bp deletion in exon 6

hirsutism, Male-pattern baldness, menstrual irregularities

Malchoff et al. 1993 [19]

Male

c.2317G > A, V729I

precocious puberty, hyperandrogenism

Karl et al. 1996 [20] and

Male

c.1808 T > A, I559N

infertility

Kino et al. 2001 [21]

Male

c.1808 T > A, I559N

ACTH producing pituitary adenoma in the same patient

Ruiz et al. 2001 [10]

Female

c.1430G > A, R477H

hirsutism, fatigue, obesity

Ruiz et al. 2001 [10]

Female

c.2035G > A, G679S

hirsutism

Mendonca et al. 2002 [22]

Female

homozygous c.1844 T > C, V571A

Female pseudohermaphroditism, ambiguous genitalia, hypertension, hypokalaemia

Vottero et al. 2002 [23]

Female

c.2373 T > G, I747M

cystic acne, hyperandrogenism, hirsutism, oligomenorrhoea

Charmandari et al. 2005 [24]

Female

c.2318 T > C, L773P

fatigue, anxiety, acne, hirsutism

Charmandari et al. 2007 [25]

Male

c.2209 T > C, F737 L

hypertension, hypokalaemia

Charmandari et al. 2008 [11]

Female

c.1201G > C, D401H

tissue-specific glucocorticoid hypersensitivity, obesity, hypertension, type 2 diabetes, metabolic syndrome

Raef et al. 2008 [26]

Male

c.2035G > A, G679S

hypertension, hypokalaemia, precocious puberty

Nader et al. 2010 [15]

Female

c.2141G > A, R714Q

hypoglycaemia, hypokalaemia, hypertension, premature pubarche, mild clitoromegaly

McMahon et al. 2010 [27]

Male

c.2318_2319delTG, Leu773fs

Hypoglycaemia, fatigue, hypertension

Trebble et al. 2010 [28]

Female

c.1835delC, Arg612fs

fatigue, facial hirsutism