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OG28.1-4,OG30.1-2 | Infertility and Endocrine Gynaecology — Glossary

Glossary — OG28.1-4,OG30.1-2 | Infertility and Endocrine Gynaecology

Key terms in this module. Tap a term to see its definition.

17-hydroxyprogesterone (17-OHP)

An adrenal steroid intermediate; elevated in 21-hydroxylase deficiency (CAH); morning basal level >2 ng/mL (follicular phase) triggers ACTH stimulation test to exclude late-onset CAH.

5α-reductase

An enzyme in hair follicles and skin that converts testosterone to the more potent dihydrotestosterone (DHT); increased activity causes idiopathic hirsutism despite normal serum androgens.

Acanthosis nigricans

A cutaneous marker of insulin resistance characterised by velvety, hyperpigmented, thickened skin folds at the nape, axillae, and groin; seen in PCOS and other insulin-resistant states.

ACTH stimulation test (Synacthen test)

Diagnostic test for adrenal insufficiency and CAH: 250 µg synthetic ACTH (tetracosactide) administered IV or IM; serum 17-OHP measured at 60 min; peak >10 ng/mL confirms late-onset CAH.

Altruistic surrogacy

Arrangement in which a woman gestates a pregnancy on behalf of another couple without financial compensation beyond reasonable expenses; the only legally permitted form of surrogacy in India under the Surrogacy Regulation Act 2021; surrogate must be a close relative aged 25–35 years who already has a child.

Anti-Müllerian hormone (AMH)

Glycoprotein secreted by granulosa cells of small antral follicles; the most cycle-independent and reliable serum marker of ovarian reserve; low in diminished reserve, elevated in PCOS.

Antral follicle count (AFC)

Total number of antral follicles (2–10 mm) visible on transvaginal ultrasound on days 2–5 of the cycle; <7 follicles indicates diminished ovarian reserve.

Aromatase (CYP19A1)

Enzyme that catalyses the conversion of androgens (androstenedione, testosterone) to oestrogens (oestrone, oestradiol) in granulosa cells, adipose tissue, and liver; target of letrozole for ovulation induction.

ART Regulation Act 2021 (India)

Legislation governing assisted reproductive technology clinics and banks in India; mandates registration, age limits (woman 21–50 years), donor restrictions, and legal parentage; prohibits commercial exploitation; child born through ART is the legitimate child of the intending couple.

Asherman syndrome

Intrauterine adhesions (synechiae) most commonly resulting from vigorous curettage of the uterine cavity; causes secondary infertility, hypomenorrhoea, or amenorrhoea.

Asthenospermia

Total sperm motility below WHO 2021 reference limit of 42%, or progressive motility below 30%.

Azoospermia

Complete absence of sperm in the ejaculate; may be obstructive (normal spermatogenesis, blocked outflow) or non-obstructive (impaired spermatogenesis).

Blastocyst transfer

Transfer of day-5 embryo (inner cell mass + trophectoderm) rather than day-3 cleavage stage embryo; allows better selection of viable embryos; associated with higher implantation rates per transfer.

Chlamydia antibody test (CAT)

Serum IgG titre for prior Chlamydia trachomatis infection; positive titre correlates with 3–5-fold increased risk of tubal damage; NICE recommends direct laparoscopy in CAT-positive women rather than HSG.

Chromopertubation

Surgical method of confirming tubal patency at laparoscopy by injecting dilute methylene blue or indigo carmine dye via a uterine manipulator and directly observing spill from the fimbriated ends.

Clomiphene citrate

Selective oestrogen receptor modulator (SERM) acting at hypothalamus and pituitary to reduce oestrogenic negative feedback and increase FSH secretion; second-line OI agent in PCOS; 50–150 mg days 2–6, maximum 6 cycles; risk of anti-oestrogenic effect on endometrium and cervical mucus.

Clomiphene resistance

Failure to achieve ovulation despite clomiphene citrate 150 mg/day for at least 3 cycles; indicates the need to escalate to adjunctive metformin, laparoscopic ovarian drilling, or gonadotrophins.

Combined oral contraceptive pill (COC)

Oestrogen-progestogen combination used in PCOS to regulate menstrual cycles, suppress androgen production (oestrogen raises SHBG), and protect the endometrium from hyperplasia.

Controlled ovarian stimulation (COS)

The process of administering injectable gonadotrophins (rFSH ± rLH or hMG) with a GnRH agonist or antagonist to suppress premature LH surge, producing multiple mature follicles for oocyte retrieval in IVF/ICSI cycles.

Cornual block

Obstruction at the interstitial (intramural) or isthmic segment of the fallopian tube closest to the uterus; may be true (fibrosis, SIN, endometriosis) or apparent (spasm — 15% false positive on HSG).

Corpus luteum

Endocrine structure formed from the ruptured follicle after ovulation; secretes progesterone to prepare and maintain the endometrium for implantation; its adequate function is confirmed by mid-luteal progesterone ≥10 nmol/L.

CYP17A1

Cytochrome P450c17 enzyme in theca cells and adrenal cortex; catalyses the rate-limiting step in androgen synthesis; up-regulated by insulin and LH in PCOS.

CYP21A2

The gene encoding 21-hydroxylase enzyme in the adrenal cortex; partial loss-of-function mutations cause non-classic (late-onset) CAH; complete deficiency causes classic CAH (salt-wasting or simple virilising) presenting in infancy.

DHEAS

Dehydroepiandrosterone sulphate; an adrenal androgen produced by the zona reticularis; normal 80-350 µg/dL; very elevated (>700 µg/dL) suggests adrenal source (carcinoma until proven otherwise).

Dihydrotestosterone (DHT)

The active intracellular androgen formed by 5α-reductase conversion of testosterone in hair follicles and skin; binds the androgen receptor with ~5× greater affinity than testosterone; drives terminal hair growth.

Eflornithine

A topical cream that inhibits ornithine decarboxylase in hair follicles, slowing facial hair growth; used adjunctively in hirsutism management; has no systemic hormonal effect.

Elective single embryo transfer (eSET)

Transfer of one selected embryo to minimise multiple pregnancy risk; remaining viable embryos are vitrified; recommended for most patients <38 years with good-quality blastocysts; does not reduce cumulative pregnancy rates when combined with frozen embryo transfer of surplus embryos.

Endometrial hyperplasia

Pathological proliferation of the endometrial glands due to unopposed oestrogen exposure; a risk in women with PCOS who have infrequent menstrual shedding (chronic anovulation).

Endometriosis

Condition in which endometrium-like tissue grows outside the uterus (ovaries, fallopian tubes, peritoneum); a major cause of infertility through tubal damage, adhesions, impaired oocyte quality, and altered peritoneal environment.

Fimbrioplasty

Surgical release of fimbrial adhesions or phimosis (partial distal closure) without a true hydrosalpinx; better outcomes than salpingostomy because mucosal integrity is more likely preserved.

Free androgen index (FAI)

Ratio of total testosterone to SHBG × 100; an indirect measure of free (bioactive) testosterone; elevated in biochemical hyperandrogenism.

GnRH antagonist protocol

IVF stimulation protocol using a GnRH antagonist (cetrorelix, ganirelix) added from day 5–6 of stimulation to prevent premature LH surge; shorter, more flexible than long downregulation protocol; preferred for PCOS patients (allows GnRH agonist trigger).

HCG trigger

Human chorionic gonadotrophin injection (5,000–10,000 IU IM or 250 µg rHCG SC) used to mimic the LH surge and trigger final oocyte maturation and ovulation approximately 36–40 hours after administration; contraindicated when multiple dominant follicles are present (OHSS risk).

Hirsutism

Growth of coarse, terminal, pigmented hair in a male-pattern distribution in a woman (upper lip, chin, chest, abdomen, inner thighs); scored using the modified Ferriman-Gallwey scale; mFG ≥8 = clinically significant.

HyCoSy (hystero-contrast sonography)

Ultrasound-based tubal patency test using an echogenic contrast medium (ExEm foam); combines uterine cavity and tubal assessment without radiation; operator-dependent.

Hydrocortisone

First-line glucocorticoid replacement therapy for congenital adrenal hyperplasia; suppresses ACTH drive and reduces adrenal androgen overproduction; dose 10-20 mg/day in divided doses for late-onset CAH.

Hydrosalpinx

Fluid-distended fallopian tube resulting from complete distal tubal occlusion (usually post-PID); the fluid is embryotoxic and reduces IVF implantation rates by approximately 50%; treatment (salpingectomy or clipping) is required before IVF.

Hyperandrogenism

Excess androgen activity, manifesting clinically as hirsutism, acne, or virilisation, and/or biochemically as elevated serum testosterone or androstenedione.

Hypogonadotrophic hypogonadism

State of low FSH and LH production causing secondary gonadal failure; in infertility, a cause of anovulation (WHO Group I) in women and impaired spermatogenesis in men; treated with exogenous gonadotrophins or pulsatile GnRH.

Hysterosalpingography (HSG)

Radiological investigation in which radio-opaque dye is injected via the cervix under fluoroscopy to assess tubal patency and uterine cavity morphology; first-line tubal assessment but has ~15% false-positive rate for proximal block.

Idiopathic hirsutism

Clinically significant hirsutism (mFG ≥8) with normal serum androgens, regular menstrual cycles, and absent polycystic ovarian morphology; caused by increased skin 5α-reductase activity; diagnosis of exclusion.

In vitro fertilisation (IVF)

ART procedure involving controlled ovarian stimulation, transvaginal oocyte retrieval, laboratory fertilisation of oocytes with sperm, embryo culture, and uterine embryo transfer; bypasses fallopian tubes entirely; indicated for tubal factor, moderate–severe male factor, failed IUI, endometriosis.

Insulin resistance

Impaired cellular response to insulin, requiring the pancreas to secrete more insulin to achieve normal glucose uptake; a central pathophysiological mechanism in PCOS.

Intracytoplasmic sperm injection (ICSI)

Variant of IVF in which a single sperm is injected directly into the oocyte cytoplasm using a glass micropipette under microscopic guidance; indicated for severe oligoasthenoteratospermia, azoospermia with surgical retrieval, prior IVF fertilisation failure; achieves ~70–80% fertilisation rate.

Intrauterine insemination (IUI)

ART procedure in which washed, concentrated spermatozoa are placed directly into the uterine cavity at the time of ovulation; used for mild male factor, unexplained infertility, and cervical factor; cumulative success ~10–15% per cycle.

Laparoscopic ovarian drilling (LOD)

Surgical alternative to gonadotrophins in clomiphene-resistant PCOS; electrosurgical or laser puncture of ovarian surface reduces androgen production and restores cyclicity; advantage: no OHSS or multiple pregnancy risk; suitable where monitoring capacity is limited.

Late-onset CAH

Non-classic congenital adrenal hyperplasia due to partial 21-hydroxylase deficiency; presents with oligomenorrhoea and hyperandrogenism mimicking PCOS; diagnosed by elevated 17-OHP and ACTH stimulation test.

Letrozole

Third-generation aromatase inhibitor used off-label for ovulation induction in PCOS; currently first-line over clomiphene based on higher live birth rates in the PPCOS II trial; given cycle days 2–6, 2.5–5 mg/day.

LH:FSH ratio

Ratio of luteinising hormone to follicle-stimulating hormone; often >2:1 in PCOS due to elevated LH pulsatility; a supportive finding but NOT a formal Rotterdam diagnostic criterion.

Metabolic syndrome

A cluster of cardiovascular risk factors — central obesity (waist >80 cm Asian women), dyslipidaemia, raised blood pressure (≥130/85), and impaired fasting glucose (≥100 mg/dL); prevalent in 30-40% of women with PCOS.

Metformin

A biguanide insulin sensitiser that reduces hepatic glucose output and peripheral insulin resistance; used in PCOS to address metabolic features and may modestly restore ovulation.

Methylene blue

Blue dye used as the contrast agent in chromopertubation at laparoscopy; diluted in saline and injected via the uterus; spill from fimbriae confirms patency; indigo carmine is an alternative.

Microsurgical tubal anastomosis

Microsurgical reconnection of fallopian tube segments after tubal sterilisation; success highest when remaining tube ≥4 cm, age <35, and sterilisation was by clips/rings rather than fulguration.

Modified Ferriman-Gallwey (mFG) score

A standardised tool scoring hair growth in 9 androgen-sensitive body areas (0-4 per area); total score ≥8 = clinically significant hirsutism.

Oligomenorrhoea

Infrequent menstrual bleeding with cycles occurring fewer than 8 times per year or with a cycle length greater than 35 days.

Oligospermia

Sperm concentration below the WHO 2021 lower reference limit of 16 million/mL in the ejaculate.

Ovarian hyperstimulation syndrome (OHSS)

Potentially life-threatening iatrogenic complication of ovulation induction (especially gonadotrophins), characterised by enlarged ovaries, fluid shifts, haemoconcentration, and in severe cases ascites, pleural effusion, and thrombosis.

Overnight low-dose dexamethasone suppression test (LDDST)

Screening test for Cushing syndrome: 1 mg dexamethasone taken at 11 PM; morning serum cortisol >1.8 µg/dL = abnormal suppression, suggesting cortisol excess.

Ovulation induction

Pharmacological stimulation of follicular development and ovulation in anovulatory women; first-line agent in PCOS is letrozole, with clomiphene as second-line.

Polycystic ovarian morphology (PCOM)

Ultrasound finding of ≥20 follicles (2-9 mm) per ovary or ovarian volume ≥10 mL on transvaginal scan; one of the three Rotterdam criteria.

PPCOS II trial

Landmark NICHD RCT (Legro et al., NEJM 2014) comparing letrozole to clomiphene citrate in 750 anovulatory PCOS women; letrozole showed superior cumulative live birth rates (27.5% vs 19.1%), higher ovulation rates, and lower multiple pregnancy rates; established letrozole as first-line agent.

Preimplantation genetic testing (PGT)

Genetic analysis of embryo trophectoderm biopsy before transfer: PGT-A (aneuploidy screening), PGT-M (monogenic disease), PGT-SR (structural rearrangements); sex selection by PGT is illegal in India under the PCPNDT Act.

Premature ovarian insufficiency (POI)

Loss of normal ovarian function before age 40, characterised by amenorrhoea, elevated FSH (>25 IU/L on two occasions 4 weeks apart), and oestrogen deficiency; formerly called premature menopause.

Primary infertility

Failure to achieve a clinical pregnancy in a couple who has never previously conceived, after 12 months of regular unprotected intercourse (6 months if woman >35 years).

Rotterdam 2003 criteria

International diagnostic consensus for PCOS requiring 2 of 3 features: oligo/anovulation, clinical/biochemical hyperandrogenism, and polycystic ovarian morphology on USG — after excluding other causes.

Salpingitis isthmica nodosa (SIN)

Nodular fibrotic thickening of the tubal isthmus visible as an irregular filling defect on HSG; a cause of proximal tubal dysfunction and ectopic pregnancy risk; associated with prior PID.

Salpingostomy

Surgical procedure creating a new distal opening in a hydrosalpinx by incising and everting the sealed fimbrial end; restores patency but carries ~15–20% ectopic pregnancy risk; reserved for mild unilateral disease in women seeking natural conception.

Secondary infertility

Failure to achieve a clinical pregnancy in a couple who has had at least one prior clinical pregnancy (live birth, miscarriage, or ectopic), despite regular unprotected intercourse for ≥12 months.

Sertoli-Leydig cell tumour

A rare androgen-secreting ovarian sex cord-stromal tumour; produces rapidly progressive virilisation; testosterone typically >200 ng/dL; treatment = fertility-sparing unilateral salpingo-oophorectomy.

Sex hormone-binding globulin (SHBG)

A hepatic protein that binds testosterone and oestradiol, limiting their bioavailability; reduced by hyperinsulinaemia in PCOS, increasing free androgen fraction.

Spironolactone

An aldosterone antagonist with anti-androgenic properties; used at 100-200 mg/day for hirsutism; blocks the androgen receptor and inhibits 5α-reductase; requires concurrent contraception (teratogenic — feminises a male fetus).

Step-up gonadotrophin protocol

Starting with the lowest effective dose of gonadotrophins (37.5–75 IU/day) and incrementally increasing every 7–14 days guided by USS and E2 monitoring, aiming for monofollicular development to minimise OHSS and multiple pregnancy risk.

Teratospermia

Abnormal sperm morphology below WHO 2021 reference limit of 4% normal forms (Tygerberg strict criteria).

Transvaginal oocyte retrieval (TVOR)

Surgical step in IVF/ICSI in which mature follicles are aspirated under transvaginal ultrasound guidance, 34–36 hours after the trigger injection, to collect oocytes for laboratory fertilisation.

Tubal cannulation

Fluoroscopic or hysteroscopic procedure using a flexible guidewire to restore patency in cornual or isthmic tubal block; success rate ~75–85% for patency restoration; outpatient.

Varicocele

Abnormal dilatation of the pampiniform venous plexus draining the testis, most common on the left; the most common surgically correctable male factor; impairs spermatogenesis by raising scrotal temperature.

Virilisation

A constellation of masculinising features indicating markedly elevated androgens: clitoromegaly, voice deepening, male-pattern alopecia, breast atrophy, increased muscle bulk. A red flag for an androgen-secreting tumour.

Vitrification

Ultra-rapid cryopreservation technique using high cryoprotectant concentration and near-instantaneous cooling to prevent ice crystal formation; current gold standard for embryo, oocyte, and sperm cryopreservation in ART.

WHO Group I anovulation

Hypogonadotrophic hypogonadism — low FSH, low LH, low oestrogen; hypothalamic-pituitary failure to drive ovaries; causes include hypothalamic amenorrhoea (weight loss, exercise, stress), Kallmann syndrome, Sheehan syndrome; treated with gonadotrophins.

WHO Group II anovulation

Normogonadotrophic anovulation — normal or near-normal FSH and oestrogen; HPG axis intact but dysregulated; includes PCOS (~85% of anovulatory infertility), hypothyroidism, hyperprolactinaemia (once treated); responds to oral ovulation induction agents.

WHO Group III anovulation

Hypergonadotrophic hypogonadism — elevated FSH (pituitary failing to drive depleted ovary); includes POI, surgical/radiation ovarian damage, Turner syndrome; standard ovulation induction ineffective; oocyte donation required.

81 terms in this module