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T O’Shea, R K Crowley, M Farrell, S MacNally, P Govender, J Feeney, J Gibney and M Sherlock

both the salt-losing and simple virilising forms of CAH. In normal adrenal steroidogenesis, ACTH promotes the production of pregnenolone from cholesterol, which is then converted to progesterone and 17-hydroxyprogesterone (17OHP) and cortisol. In the

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Chrisanthi Marakaki, Anna Papadopoulou, Olga Karapanou, Dimitrios T Papadimitriou, Kleanthis Kleanthous and Anastasios Papadimitriou

OHP alone, and thus some patients with 11β-OHD may be misdiagnosed as presenting with a 21a-hydroxylase deficiency. A careful steroid evaluation of serum 17OHP with 11-deoxycortisol, which also allows for detection of cases of apparent combined 21OHD

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Asma Deeb, Hana Al Suwaidi, Salima Attia and Ahlam Al Ameri

pressure Initial potassium level (mmol/l) (NR 4.0–4.8) Initial ACTH level (mcg/l) (NR 3–11) Testosterone level DHEAS level 17 OHP level (nmol/l) (NR 0.9–8.8) Patient (1) Abdominal pain (retroperitoneal germ cell

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N F Lenders and J R Greenfield

elevated, with normal SHBG. DHEAS andoestradiol were normal with gonadotropins in mid normal range. Baseline 17OH progesterone was elevated, albeit with no significant stimulation with ACTH. Cortisol did not suppress on 1 mg overnight dexamethasone

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Himangshu S Bose, Alan M Rice, Brendan Marshall, Fadi Gebrail, David Kupshik and Elizabeth W Perry

mineralocorticoid therapy, ACTH and plasma renin activity (PRA) levels were elevated, progesterone, 17-hydroxyprogesterone, dihydroepiandrosterone and androstenedione levels were below the detectable range of the assays used, and the sodium was mildly low, while the

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J Rajkanna and S O Oyibo

blood tests pre- and post-surgery with laboratory reference values Biochemical test Normal reference range Pre-surgery December 2011 Post-surgery May 2013 August 2014 17-OH-progesterone <13 nmol/l >152

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Jasmeet Kaur, Alan M Rice, Elizabeth O’Connor, Anil Piya, Bradley Buckler and Himangshu S Bose

– initially hypernatremia accompanied by eukalemia, followed by hyponatremia and hyperkalemia during the last 24 h of life. Newborn screening 17-OH progesterone level on the second day of life was reported to be ‘within normal limits’, and a total T 4 was

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Philip D Oddie, Benjamin B Albert, Paul L Hofman, Craig Jefferies, Stephen Laughton and Philippa J Carter

39 44 54 65 Thyroxine (µg/day) 0 0 0 25 32 37.5 37.5 25 Testosterone 6.7 <0.4 <0.4 <0.4 0.0–0.5 nmol/L DHEA-S 17.7 0.2 <0.01 <0.01 0.01–0.7 µmol/L Androstenedione

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M A Shehab, Tahseen Mahmood, M A Hasanat, Md Fariduddin, Nazmul Ahsan, Mohammad Shahnoor Hossain, Md Shahdat Hossain and Sharmin Jahan

was advanced between 16 and 17 years. Serum electrolyte report showed Na-134 mmol/L, K-5.6 mmol/L, Cl-103 mmol/L. Hormonal assay ( Table 1 ) showed low serum LH and FSH with inappropriately high age-matched testosterone level. Serum basal cortisol was

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Maura Bucciarelli, Ya-Yu Lee and Vasudev Magaji

trying to hurt her. On exam she had a round, ruddy, hirsuite face with acne and her blood pressure was 156/108. Investigation Laboratory studies showed potassium 1.7 mEq/l (normal range 3.7–5.2 mEq/l), random cortisol >70 mcg/dl (normal range 6