The endocrine pattern of late onset adrenal hyperplasia (21-hydroxylase deficiency)

Carmina, Enrico; Gagliano, Anna Maria; Rosato, F.; Maggiore, M; Jannì, A

doi:10.1007/bf03348395

Cited by 19 publications

(5 citation statements)

References 13 publications

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“…In the past, we had demonstrated that 11β‐hydroxy‐androstenedione (a marker of adrenal androstenedione production) is increased in all patients with NCAH while only a minority of patients present also an increase of serum DHEAS 38 . Although the peripheral pattern of serum androgens is similar to that found in PCOS, 39–41 the mean serum levels of androstenedione and testosterone are generally higher in NCAH than in PCOS 7 …”

Section: Androgen Source In Ncahmentioning

confidence: 78%

Ovarian and Adrenal Hyperandrogenism

Carmina

2006

Annals of the New York Academy of Sciences

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Because in normal women androgens are secreted in almost equal quantities by both adrenals and ovaries, for many years many studies have tried to distinguish the source of androgen excess. However, in the last 10-15 years, the diagnoses of ovarian or adrenal hyperandrogenism have almost disappeared. This is due to the lack of specificity of dynamic tests as well as to the emphasis given on clinical information and ovarian sonography for the diagnosis of hyperandrogenic syndromes. However, determination of the source of increased androgens may still be useful for improving the classification and the understanding of androgen excess disorders. The aim of this review is to examine the source of androgen excess in the three more common androgen excess disorders: polycystic ovary syndrome (PCOS), idiopathic hyperandrogenism; and nonclassic 21-hydroxylase deficiency (NCAH). The ovary is the main androgen source in PCOS and idiopathic hyperandrogenism while adrenal androgen secretion is prevalent in NCAH. However, androgen secretion from more than one source is common in all main forms of hyperandrogenism as is the case in 70-80% of patients with NCAH, in 35% of women with PCOS, and in 50% of patients with idiopathic hyperandrogenism. Secondary PCOS is the main cause of ovarian androgen excess in nonclassic 21-hydroxylase deficiency while adrenal hyperandrogenism in PCOS and idiopathic hyperandrogenism is probably the consequence of multiple factors including hyperinsulinemia, altered cortisol metabolism, and increased ovarian steroid production. The clinical image is not generally affected by the source of androgen excess. However, hyperandrogenic patients with increased dehydroepiandrosterone sulfate (DHEAS) tend to have lower body weight and insulin levels and a better metabolic profile.

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Section: Androgen Source In Ncahmentioning

confidence: 78%

Ovarian and Adrenal Hyperandrogenism

Carmina

2006

Annals of the New York Academy of Sciences

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“…Normal circulating levels of 17-hydroxyprogesterone (<3 mg/L) were used to exclude the diagnosis of nonclassic 21-hydroxylase deficiency (19). Clinical data and/or urinary cortisol (<60 mg/day) assessment were used to exclude the diagnosis of Cushing syndrome (20), and normal levels of prolactin (<25 ng/mL) used to exclude hyperprolactinemia (9).…”

Section: Methodsmentioning

confidence: 99%

Influence of sociocultural factors on the ovulatory status of polycystic ovary syndrome

Fede

Mansueto

Longo

et al. 2009

Fertility and Sterility

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“…Adrenal androgens are increased in NCAH. However, DHEAS is usually normal, while androstenedione, testosterone and dihydrotestosterone (DHT) are elevated (27,51,52). The CYP21A2 deficiency results in increased 17OHP levels regardless of the ACTH increase owing to the kinetics in the enzymatic steps.…”

Section: Biochemistry and Pathophysiologymentioning

confidence: 99%

MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency

Nordenström

Falhammar

2019

European Journal of Endocrinology

124

129

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Non-classic congenital adrenal hyperplasia (NCAH) is a relatively common disorder regardless of ethnicity, but most cases are never diagnosed, especially in males. A baseline 17-hydroxyprogesterone measurement may be used for screening, but 17-hydroxyprogesterone measurement after ACTH stimulation is the gold standard. We advocate a CYP21A2 mutation analysis to verify the diagnosis, for genetic counselling and for better prognostic and treatment guidance. Most patients are diagnosed in adolescence and adult life with hirsutism, acne, a PCOS-like picture and fertility issues. Many men with NCAH never seek medical attention and escape diagnosis. Although treatment is somewhat controversial, an early diagnosis and start of treatment may have positive implications on growth and be relevant for preventing and ameliorating the symptoms and consequences of androgen excess that develop over time, including fertility issues. Long-term treatment with glucocorticoids will improve the androgen symptoms but may result in long-term complications, such as obesity, insulin resistance, hypertension, osteoporosis and fractures. The glucocorticoid doses should be kept low. However, complications seen in NCAH, assumed to be caused by the glucocorticoid treatment, may also be associated with long-term androgen exposure. Oral contraceptive pills are a common treatment option for young females with NCAH. Regular clinical monitoring to improve the clinical outcome is recommended. It is important to acknowledge that glucocorticoid treatment will lead to secondary cortisol insufficiency and the need for stress dosing. Studies focusing on the specific difficulties patients with NCAH face, both those with a late clinical diagnosis and those with a neonatal diagnosis obtained by screening, are warranted.

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The endocrine pattern of late onset adrenal hyperplasia (21-hydroxylase deficiency)

Cited by 19 publications

References 13 publications

Ovarian and Adrenal Hyperandrogenism

Ovarian and Adrenal Hyperandrogenism

Influence of sociocultural factors on the ovulatory status of polycystic ovary syndrome

MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency

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