1.

Vena dreapta mai mica si direct in cava s3

2. Steroids may enhance inactivation of 25(OH)D by up-regulating 24-hydroxylase activity. S9

3. The enzyme CYP3A4 is responsible for metabolism of 80% of drugs and xenobiotics, including all steroids.
CYP3A4 inactivates cortisol to 6β-hydroxycortisol; therefore, CYP3A4 inducers result in rapid inactivation of cortisol and
to compensate, patients might need increased doses of glucocorticoid replacement. However, even when titres are
negative, autoimmune adrenalitis is still the most likely underlying cause because many patients become antibody
negative when autoimmune destruction has been present for some time. S23

4. Hyperpigmentation (41–74%; from enhanced activation of skin melanocortin 1 receptors [MC1R] by concentrations
of high adreno- corticotropic hormone). In secondary adrenal insufficiency, the mineralocorticoid axis is intact; thus,
postural hypotension and electrolyte abnormalities are less frequent.17 However, hyponatraemia can occur due to
decreased inhibitory control of vasopressin secretion, 22 effectively resulting in mild syndrome of inappropriate
antidiuretic hormone secretion. S31

5. Daily physiological production of cortisol is about 5–6 mg/m2 body surface area. Recommended hydro- cortisone
doses are 15–25 mg, usually given in two to three doses per day, with 50–66% given in the morning on awakening.9 If
given two times a day, the second dose is usually given 6–8 h after the morning dose. If given three times per day, the
second dose is given 4–6 h after the early morning dose and the third dose 4–6 h after this.

Cortisone (1·0 mg hydro- cortisone=1·6 mg cortisone acetate) and prednisone (1·0 mg hydrocortisone=0·25 mg
prednisone) need intrahepatic activation to cortisol and prednisolone (1·0 mg hydrocortisone=0·2 mg prednisolone),
respectively, by 11β-hydroxysteroid dehydrogenase type 1. S36

6. Two copies of an abnormal gene are required for disease to occur, and not all mutations and partial deletions
result in disease. The phenotype can vary from clinically inapparent disease (occult or cryptic adrenal hyperplasia) to a
mild form of disease that is expressed in adolescence or adulthood (nonclassic adrenal hyperplasia) to severe disease
that results in adrenal insufficiency in infancy with or without virilization and salt wasting (classic adrenal hyperplasia).
S50.

7. BMJ The classical phenotype is predicted when a patient carries 2 severe mutations. The nonclassical
phenotype is caused by a mild/mild or severe/mild genotype, as is expected in an autosomal recessive disorder. S53

8. • CAH clasic: deșeu de sare

• Forma cea mai gravă a bolii

• Aproximativ 75% din cazurile clasice

• Poate să prezinte organele genitale ambigue la femele

• Caracterizată prin deficit de glucocorticoizi și mineralocorticoizi, ducând la amenințarea vieții suprarenale și crize de
sare care consumă vărsături și deshidratare, apar la începutul vieții sugarilor.

• CAH clasic: virilizer simplu

• Defectele enzimatice sunt moderate

• Aproximativ 25% din cazurile clasice • Păstrați capacitatea de conservare a sării.

• CAH nonclassical

• Deficiență enzimatică ușoară până la moderată

• Prezentați postnatal cu semne de hiperandrogenism

• Femelele nu au organe genitale viriliate la naștere

• Poate să prezinte la un copil o dezvoltare precoce a părului axilar sau a mirosului, părului pubian, acneei sau înălțimii,
statură cu o vârstă osoasă avansată, care poate avea ca rezultat o statură scurtă

• Femele adolescente și adulte pot prezenta, de asemenea, oligomenoree, amenoree, polichistice ovarele, acneea,
hirsutismul, alopecia și fertilitatea afectată. S60

9. Fetal cortisol levels are low in very early gestation, rise during wk 8–12 while the external genitalia are
differentiating (59), are only about 10% of maternal levels during midgestation (60, 61), and then increase during the
third trimester. Thus, the constant dexamethasone dose currently used may result in GC levels that exceed typical
midgestation physiological fetal GC levels by about 60-fold. S75