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STEROID PANELS

on state of the art (LC-MS/MS) Platform

Indications for Testing

Disorders of Sex development (DSD)- Ambiguous genitalia

Unexplainable electrolytes results in infancy

Premature sexual development in older children

Hirsutism and/or irregular menses in adult females -PCOS


Why steroid profiling in Ambiguous genitalia*?

Ambiguous genitalia have varied aetiologies, 46XX DSD being the


commonest of all with predominance of Congenital Adrenal Hyperplasia
(CAH), salt wasting type.

Prompt diagnosis and management of CAH patients not only saves the
child but it also alleviates the agony of sex rearing in the family.

Diagnosis of CAH is based on the quantification of 17-hydroxyprogesterone


(17-OHP), usually by immunoassay, which has low specificity and high
false-positive rates, resulting in a relatively high demand for a second-tier
confirmation test.

Endocrine Society Clinical Practice Guidelines (2018) recommends


second tier screen by liquid chromatography-tandem mass
spectrometry (LC-MS/MS)

Various enzyme defects cannot be distinguished based on 17-OHP levels,


11β-hydroxylase, deficiency of which leads to accumulation of its
substrates:11-deoxycortisol (11-S) and 11-deoxycorticosterone (DOC)
whereas A 17 hydroxylase / 17, 20-lyase deficiency a rare form of CAH, leads
to elevation of plasma ACTH levels and accumulation of mineralocorticoids
such as corticosterone and 11-deoxycorticosterone (DOC)

The serum steroid profile by (LC-MS/MS) allows accurate and


simultaneous quantification of thirteen steroids in the same analysis.
Such an application helps to detect accumulation of specific steroids as
a result of enzyme deficiencies, differentiate the various enzymatic
defects potentially causing CAH, improves the positive predictive value
of new born screening for CAH and leads to an early intervention.

Finally, the determination of multiple steroids by (LC-MS/MS) in the


diagnostic confirmation of CAH is also useful and informative for the
subsequent molecular testing confirmation.
Why steroid profiling in Polycystic Ovarian Syndrome (PCOS)*?

Polycystic ovary syndrome (PCOS) is defined by a clinical triad of


anovulation, insulin resistance, and androgen excess.

Hyperandrogenism is a key feature of PCOS, which is the most common


endocrine disorder in women of reproductive age.

PCOS consensus criteria define androgen excess based on serum


testosterone levels but literature suggest 10% of PCOS patients may be
misclassified as normoandrogenemic if androstenedione is not measured.

Elevated levels of adrenal androgens, primarily dehydroepiandrosterone


sulfate (DHEAS), are present in 40%–70% of hyperandrogenic women
with PCOS whereas 20%–30% of women with PCOS have increased
circulating levels of androstenedione and dehydroepiandrosterone.

It is likely that simultaneous measurement of multiple androgens


(steroid/androgen profiling with highly specific and sensitive method
LC-MS/MS) be more sensitive for detecting PCOS-related androgen excess
and for predicting metabolic risk.

*References:
1. Hyperandrogenemia Predicts Metabolic Phenotype in Polycystic Ovary Syndrome: The Utility of Serum Androstenedione. J Clin Endocrinol Metab, March 2014,
99(3):1027–1036
2. Serum Steroid Profiling by Liquid Chromatography–Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia:
A Neonatal Case Report. Metabolites 2019, 9, 284; doi:10.3390/metabo9120284
Our Key Steroid Test Range

Test Code Test name Components

G197 Steroid Panel Aldosterone, Androstenedione,Corticosterone, Cortisol,


3: 13 Steroids Cortisone, 11-Deoxycortisol, 11-Deoxycorticosterone,
21-Deoxycortisol, DHEA, DHEAS, 17α-Hydroxyprogesterone,
Progesterone, Testosterone, Total Ultrasensitive

G190 Steroid Panel: 17 Hydroxyprogesterone, Androstenedione, Cortisol ,


21- Hydroxylase 21-deoxycortisol, 17-Hydroxyprogesterone + 21 deoxycortisol :
Deficiency Cortisol Ratio

G195 Steroid Panel 1:6 Aldosterone, Corticosterone, Cortisol, Cortisone,


Steroids 11-Deoxycortisol, 21-Deoxycortisol

G196 Steroid Panel 2, 7 Androstenedione, DHEA, DHEAS, 17-α-Hydroxyprogesterone,


Steroids Progesterone, Testosterone, Total, 11-Deoxycorticosterone

G191 Steroid Panel For Androstenedione, Cortisol, 11-Deoxycortisol, DHEA,


Congenital Adrenal 17-α-Hydroxyprogesterone, Progesterone, Testosterone Total ,
Hyperplasia (CAH) 11-Deoxycorticosterone, 21-Deoxycortisol,
17-α-Hydroxyprogesterone + 21-Deoxycortisol : Cortisol ratio

G193 Steroid Panel For PCOS Androstenedione, DHEAS,


/ Non-classical CAH 17-α-Hydroxyprogesterone,Testosterone, Total
Differentiation
G194 Steroid Panel For Androstenedione, DHEA, DHEAS, 17-α-Hydroxy-progesterone,
Premature Testosterone Total, Ultrasensitive
Adrenarche

Z040 Hirsutism Panel Androstenedione, DHEA, DHEAS, 17α-Hydroxyprogesterone,


Testosterone Total, Ultrasensitive, Free Testosterone

TAT/Reported on*
Sample Mon / Thu by 9 am; Report Wed / Sat
*Sample reaching NRL (National Reference Lab, Delhi)

Technique:
Liquid chromatography–tandem mass spectrometry (LC-MS / MS)
*T&C

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