Endocrinology
Stephan Strobel, Lewis Spitz, Stephen D. Marks in Great Ormond Street Handbook of Paediatrics, 2019
In cases with genital ambiguity or virilisation, a karyotype and pelvic ultrasound scan to identify the internal organs are mandatory. A raised plasma 17-hydroxyprogesterone level (17-OHP) indicates a diagnosis of 21-hydroxylase deficiency. A urinary steroid profile may help to define the enzyme block. In cases of simple virilising CAH, a synacthen test (flat cortisol response, raised 17-OHP levels) with the collection of appropriate plasma and urine samples will assist in the diagnosis. Urea and electrolyte measurements, plasma renin activity and plasma aldosterone levels are essential in the diagnosis of salt-losing CAH. A bone age (usually advanced) may be helpful in the management of simple virilising CAH. Genetic analysis is useful, particularly if future pregnancies are being considered.
Adrenal Gland and Multiple Endocrine Neoplasia 1 and 2
Victor A. Bernstam in Pocket Guide to GENE LEVEL DIAGNOSTICS in Clinical Practice, 2019
CAH is a manifestation of a constellation of metabolic derangements largely due to steroid 21-hydroxylase (21-OH) deficiency. This enzyme of the glucocorticoid pathway converts 17-hydroxyprogesterone to 11-deoxycortisol, then eventually to cortisol. In the mineralocorticoid pathway, leading to the production of aldosterone, 21-OH converts progesterone to deoxycorticosterone. Deficient activity of 21-OH results in the accumulation of precursors, particularly 17-hydroxyprogesterone, which stimulates the production of adrenal androgens clinically manifested as virilization. The other consequence of 21-OH deficiency is the defective production of aldosterone, leading to the syndrome designated as “salt wasting”.
Endocrinology and gonads
Jagdish M. Gupta, John Beveridge in MCQs in Paediatrics, 2020
11.11. Congenital adrenal hyperplasia (21-hydroxylase deficiency)is associated with high plasma 17-hydroxyprogesterone levels.is a common cause of ambiguous genitalia in newborn girls.may be associated with salt wasting.is associated with high plasma Cortisol levels.may be complicated by infertility.
Determination of estrone sulfate, testosterone, androstenedione, DHEAS, cortisol, cortisone, and 17α-hydroxyprogesterone by LC-MS/MS in children and adolescents
Published in Scandinavian Journal of Clinical and Laboratory Investigation, 2020
Carina Ankarberg-Lindgren, Mats X. Andersson, Jovanna Dahlgren
17α-hydroxyprogesterone (17OHP) is predominantly synthesized in the adrenal glands but also in the gonads, and it is a metabolic precursor of cortisol. Elevated levels of 17OHP co-occurring with elevated concentrations of androstenedione (A4) and testosterone (T) is indicative of congenital adrenal hyperplasia (CAH) in the newborn or non-classical CAH in children and adolescents [10]. In many countries, determination of 17OHP is routinely used as neonatal screening and monitoring of optimal hydrocortisone treatment in CAH [11]. However, with MS/MS technology, quantitation of 17OHP together with A4 and T is also useful in the investigation of suspected hyperandrogenism and its origin [12–14]. Although the underlying mechanism of hyperandrogenism in females with polycystic ovarian syndrome (PCOS) is not fully understood yet, a recent study on obese adolescent girls showed that A4 and T are key steroid hormones to distinguish between PCOS and non- PCOS [15]. Reference intervals during pubertal development are needed for further research studies, assessing differential diagnosis and monitoring of replacement therapy.
Prevalence of polycystic ovary syndrome in Thai University adolescents
Published in Gynecological Endocrinology, 2018
Jetsadaporn Kaewnin, Orawin Vallibhakara, Sakda Arj-Ong Vallibhakara, Penpun Wattanakrai, Benjamaporn Butsripoom, Ekasith Somsook, Sirichai Hongsanguansri, Areepan Sophonsritsuk
Lipid and 75-g oral glucose tolerance tests were performed using cholesterol oxidase-phenol aminophenazone (CHOD-PAP) and hexokinase methods (ACCELERATOR a3600 analyzer, Abbott, Chicago, IL), respectively. The intra- and inter-assay coefficients of variation (CVs) for the lipid test were 2.6 and 0.9, respectively, and 2.8 and 7.0, respectively, for the oral glucose tolerance test. Follicle-stimulating hormone (FSH), testosterone, and prolactin were measured using electrochemiluminescence (ECLIA) (ARGITECT i2000 analyzer, Abbott, Chicago, IL). The intra- and inter-assay CVs for FSH were 4.2 and 4.6, respectively, and for prolactin were 3.8 and 4.7, respectively. Thyroid-stimulating hormone was measured by ECLIA (Cobas e601 immunoassay analyzer, Roche Diagnostics, Mannheim, Germany). The intra- and inter-assay CVs were 3.0 and 7.2, respectively. Serum 17-hydroxyprogesterone was measured using an immunofluorometric assay (Diagnostic Products Corp, Los Angeles, CA). The intra-and inter-assay CVs were 6.7 and 11, respectively.
Virilising ovarian tumour in a postmenopausal woman after bilateral oophorectomy
Published in Journal of Endocrinology, Metabolism and Diabetes of South Africa, 2020
Ankia Coetzee, Jocelynn Ann Hellig, Candice Sher-Lockitz, Annelize Barnard, Viju Thomas, Magda Conradie
Baseline biochemical results are tabulated in Table 1. Biochemical testing documented elevated serum luteinising hormone (LH) and follicle stimulating hormone (FSH) levels along with low circulating oestradiol in keeping with the patient’s postmenopausal state. The serum total testosterone was markedly high at 10.8 nmol/l (normal female range: 0.5–2.6 nmol/l). The weaker androgens, dehydroepiandrosterone sulphate (DHEAS) and androstenedione, respectively predominantly from adrenal and ovarian origin, were both within the normal laboratory reference ranges. A random, unstimulated 17α- hydroxyprogesterone (17OHP) level was slightly elevated at 4.3 nmol/l (female reference range 0.6–2.2). Pathological cortisol excess was excluded based on an 8:00 am serum cortisol level that suppressed following administration of low dose (1 mg) exogenous dexamethasone to less than 50 nmol/l (32 nmol/l).
Related Knowledge Centers
- Biosynthesis
- Estrogen
- Glucocorticoid
- Mineralocorticoid
- Precursor
- Progesterone
- Steroid Hormone
- Androgen
- Progestogen
- Neurosteroid