Assessment of primary amenorrhoea

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

High LH levels suggest alternate diagnoses. Results are unreliable if patient is taking any form of hormonal therapy.

Performed if suspected Kallman syndrome. Also rules out structural or traumatic processes.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

High LH levels suggest alternate diagnoses. Results are unreliable if patient is taking any form of hormonal therapy.

Performed if suspected Kallman syndrome. Also rules out structural or traumatic processes.

RED-S consists of disordered eating, amenorrhoea, and low bone mineral density.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

High LH levels suggest alternate diagnoses. Results are unreliable if patient is taking any form of hormonal therapy.

Performed if suspected Kallman syndrome. Also rules out structural or traumatic processes.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

High LH levels suggest alternate diagnoses. Results are unreliable if patient is taking any form of hormonal therapy.

Performed if suspected Kallman syndrome. Also rules out structural or traumatic processes.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

High LH levels suggest alternate diagnoses. Results are unreliable if patient is taking any form of hormonal therapy.

Rules out structural or traumatic processes.

Persistently elevated levels warrant further evaluation to rule out primary hypothyroidism or prolactinoma. Testing should be performed mid-morning, but patients do not have to be fasting. Macroprolactinaemia, caused by elevated levels of macroprolactin (biologically inert), should be assessed by adding polyethylene glycol to the serum sample.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com Mildly elevated levels may indicate another structural central nervous system lesion.[1]Practice Committee of the American Society for Reproductive Medicine. Current evaluation of amenorrhea: a committee opinion. Fertil Steril. 2024 Jul;122(1):52-61. https://www.fertstert.org/article/S0015-0282(24)00082-7/fulltext http://www.ncbi.nlm.nih.gov/pubmed/38456861?tool=bestpractice.com ​​

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Prolactin has a suppressive influence on the hypothalamus, resulting in hypogonadotrophic hypogonadism. Results are unreliable if patient is taking any form of hormonal therapy.

Prolactin has a suppressive influence on the hypothalamus, resulting in hypogonadotrophic hypogonadism. Results are unreliable if patient is taking any form of hormonal therapy.

Bone density measurement considered if hypoestrogenaemia is prolonged. Any cause resulting in a lengthy hypoestrogenic state may result in bone loss.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results from peripheral androgen conversion and decreased sex hormone binding globulin (influence of excess androgen). Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

Fasting elevation confirms non-classic congenital adrenal hyperplasia (21-hydroxylase deficiency).

Marked elevations are suspicious for adrenal tumour (rapidly progressive signs of androgen excess) and require adrenal imaging.

A history of persistent oligomenorrhoea associated with clinical or biochemical hyperandrogenism may be sufficient for diagnosis, after other aetiologies have been excluded.[28]Legro RS, Arslanian SA, Ehrmann DA, et al. Diagnosis and treatment of polycystic ovary syndrome: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2013 Dec;98(12):4565-92. https://pmc.ncbi.nlm.nih.gov/articles/PMC5399492 http://www.ncbi.nlm.nih.gov/pubmed/24151290?tool=bestpractice.com

Well-standardised among differing laboratories; however, does not necessarily reflect the degree of clinical hyperandrogenism. Significant elevations suspicious for ovarian or adrenal tumour (rapidly progressive signs of androgen excess). Results are unreliable if patient is taking any form of hormonal therapy.

A history of persistent oligomenorrhoea associated with clinical or biochemical hyperandrogenism may be sufficient for diagnosis, after other aetiologies have been excluded.[28]Legro RS, Arslanian SA, Ehrmann DA, et al. Diagnosis and treatment of polycystic ovary syndrome: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2013 Dec;98(12):4565-92. https://pmc.ncbi.nlm.nih.gov/articles/PMC5399492 http://www.ncbi.nlm.nih.gov/pubmed/24151290?tool=bestpractice.com

Adolescents with PCOS may have polycystic type ovaries, but there is ongoing discussion as to the utility of ultrasound as a confirmatory diagnostic marker. Imaging may represent a more meaningful tool in older adolescents. Ovulatory dysfunction associated with hyperandrogenism may be sufficient after other aetiologies have been excluded.

Hypertrophy of ovarian stroma, resulting in ovarian androgen production. Due to pulsatile secretion of LH. Levels may not confirm or exclude PCOS. Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Assesses for hyperinsulinaemia (30% risk) or type 2 diabetes mellitus (7% risk) in patients with PCOS.[32]Ehrmann DA, Barnes RB, Rosenfield RL, et al. Prevalence of impaired glucose tolerance and diabetes in women with polycystic ovary syndrome. Diabetes Care. 1999 Jan;22(1):141-6. http://www.ncbi.nlm.nih.gov/pubmed/10333916?tool=bestpractice.com [33]Thong EP, Codner E, Laven JSE, et al. Diabetes: a metabolic and reproductive disorder in women. Lancet Diabetes Endocrinol. 2020 Feb;8(2):134-49. https://www.doi.org/10.1016/S2213-8587(19)30345-6 http://www.ncbi.nlm.nih.gov/pubmed/31635966?tool=bestpractice.com

Patients with PCOS are at risk for hyperlipidaemia and cardiovascular events.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results from peripheral androgen conversion and decreased sex hormone binding globulin (influence of excess androgen). Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

The diagnosis is confirmed by an exaggerated response to high-dose adrenocorticotrophic hormone (250 micrograms).

Significant elevations are suspicious for adrenal tumour (rapidly progressive signs of androgen excess) and require adrenal imaging.

Well-standardised among differing laboratories; however, does not necessarily reflect the degree of hyperandrogenism. Significant elevations suspicious for ovarian or adrenal tumour (rapidly progressive signs of androgen excess). Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

Presence of Y chromosome predisposes to gonadal tumours.

Results are unreliable if patient is taking any form of hormonal therapy.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

Results are unreliable if patient is taking any form of hormonal therapy.

Occasionally shows obstructed, small rudimentary horn (active endometrium) and normal ovarian characteristics.

Results are unreliable if patient is taking any form of hormonal therapy.

About 30% of patients will have a renal anomaly.[29]Govindarajan M, Rajan RS, Kalyanpur A, et al. Magnetic resonance imaging diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. J Hum Reprod Sci. 2008;1:83-85. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2700671 http://www.ncbi.nlm.nih.gov/pubmed/19562052?tool=bestpractice.com Pelvic anatomy is better defined than with ultrasound.

Approximately 8% to 32% of patients will have skeletal anomalies.[30]American College of Obstetricians and Gynecologists' Committee on Adolescent Health Care-Gynecology. ACOG Committee Opinion No. 728: Müllerian agenesis: diagnosis, management, and treatment. Obstet Gynecol. 2018 Jan;131(1):e35-42. https://journals.lww.com/greenjournal/fulltext/2018/01000/acog_committee_opinion_no__728__m_llerian.41.aspx http://www.ncbi.nlm.nih.gov/pubmed/29266078?tool=bestpractice.com

Imperforate hymen may be detected on pelvic examination.[Figure caption and citation for the preceding image starts]: Imperforate hymenLardenoije C, Aardenburg R, Mertens H. Imperforate hymen: a cause of abdominal pain in female adolescents. BMJ Case Reports 2009; doi:10.1136/bcr.08.2008.0722 [Citation ends].

More sensitive and confirmatory than ultrasound, ruling out other structural anomalies such as cervical agenesis and endometrial hypoplasia.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

Results are unreliable if patient is taking any form of hormonal therapy.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

High LH levels suggest alternate diagnoses. Results are unreliable if patient is taking any form of hormonal therapy.

MRI with and without contrast is preferred. CT: partially cystic with solid components, calcifications.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

Results are unreliable if patient is taking any form of hormonal therapy.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

Results are unreliable if patient is taking any form of hormonal therapy.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results from peripheral androgen conversion and decreased sex hormone binding globulin (influence of excess androgen). Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

Marked DHEAS elevations warrant adrenal evaluation.

Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results from peripheral androgen conversion and decreased sex hormone binding globulin (influence of excess androgen). Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

Marked DHEAS elevations warrant adrenal evaluation.

Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

Any permutation with a Y chromosome requires removal of gonads because these patients have up to a 30% chance of developing a gonadal neoplasm. Y chromosome in Swyer syndrome is dysfunctional, and so the streak gonads fail to produce Mullerian inhibiting substance, allowing for development of normal female internal genitalia.

Results are unreliable if patient is taking any form of hormonal therapy.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Decreased androgen production (lack of substrate) results in decreased aromatisation to oestrogen. Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

Results are unreliable if patient is taking any form of hormonal therapy.

Mineralocorticoid excess results in volume expansion.

Results are unreliable if patient is taking any form of hormonal therapy.

All FSH assays have wide normative ranges, depending not only on cycle time but also on patient age. Results are unreliable if patient is taking any form of hormonal therapy.

Results are unreliable if patient is taking any form of hormonal therapy.

Testing should be performed mid-morning, but patients do not have to be fasting.[31]Gibney J, Smith TP, McKenna TJ. The impact on clinical practice of routine screening for macroprolactin. J Clin Endocrinol Metab. 2005 Jul;90(7):3927-32. https://www.doi.org/10.1210/jc.2004-2234 http://www.ncbi.nlm.nih.gov/pubmed/15811931?tool=bestpractice.com

X-linked recessive disorder resulting in defective androgen receptor.

Results are unreliable if patient is taking any form of hormonal therapy.

Requires removal of gonads by age 20 years to avoid risk of malignancy.

Results are unreliable if patient is taking any form of hormonal therapy.