OG23.1-3,OG24.1,OG25.1 | Puberty and Menstrual Disorders — Glossary

Any uterine bleeding that falls outside normal parameters for frequency (24–38 days), regularity, duration (4.5–8 days), or volume (≤80 mL/cycle), or that occurs at an abnormal time (intermenstrual, postcoital, postmenopausal).

The maturation of the adrenal zona reticularis with increased secretion of DHEAS and androstenedione; a distinct event from gonadarche that precedes it by ~2 years.

Absence of menstruation; classified as primary (menarche never occurred by the age thresholds) or secondary (cessation of established menses for ≥3 months with regular prior cycles or ≥6 months with irregular cycles).

A condition of 46XY karyotype in which androgen receptors are absent or defective; complete AIS (CAIS) produces a phenotypically female individual with absent uterus (no Müllerian derivatives) and intra-abdominal testes; presents as primary amenorrhea; must be distinguished from MRKH by karyotype.

Drug class (anastrozole, letrozole) that blocks peripheral conversion of androgens to oestrogens; used in peripheral precocious puberty (e.g. McCune-Albright) where the autonomous oestrogen source is in the ovary.

Intrauterine adhesions (synechiae) typically resulting from damage to the basal endometrium after uterine curettage or endometrial tuberculosis; presents with secondary amenorrhea; characterised by negative progesterone and combined oestrogen-progesterone challenge tests; treated by hysteroscopic adhesiolysis.

AUB caused by ectopic endometrial glands and stroma within the myometrium; presents with heavy painful menstruation in multiparous women in their 40s; diagnosed by ultrasound (heterogeneous myometrium, myometrial cysts) or MRI (junctional zone >12 mm).

AUB caused by systemic bleeding disorders; von Willebrand disease is the most common, affecting ~1% of women with HMB; suspected when HMB began at menarche or there is a positive bleeding history from other sites.

AUB attributed to disorders of local endometrial haemostatic mechanisms (prostaglandin or fibrinolytic abnormalities) without structural, ovulatory, or systemic cause; a diagnosis of exclusion; responds to tranexamic acid and NSAIDs.

AUB caused by exogenous interventions — anticoagulants, hormonal therapies (breakthrough bleeding on OCP), intrauterine devices, or chemotherapy.

AUB caused by uterine fibroids, particularly submucosal fibroids (FIGO types 0–2) that distort the endometrial cavity; diagnosed by pelvic ultrasound or hysteroscopy.

AUB caused by endometrial hyperplasia (with or without atypia) or endometrial carcinoma; atypical hyperplasia is a premalignant condition with 8–29% concurrent carcinoma risk; mandatory endometrial biopsy for diagnosis.

AUB caused by anovulatory or oligo-ovulatory cycles producing irregular, heavy, or unpredictable bleeding from unopposed oestrogen; most common non-structural cause; causes include PCOS, hypothyroidism, hyperprolactinaemia.

AUB caused by endometrial or endocervical polyps; typically causes intermenstrual or postcoital spotting; diagnosed by hysteroscopy or saline infusion sonography; treated by hysteroscopic polypectomy.

Skeletal maturity estimated from left wrist X-ray (Greulich-Pyle atlas); delayed bone age (2–3 yr behind chronological age) is characteristic of CDGP and distinguishes it from permanent causes of hypogonadotropic hypogonadism.

Premature activation of the HPO axis causing puberty before age 8; LH and FSH are elevated and respond to GnRH stimulation; 80–90% are idiopathic in girls.

46,XY with functional testes but complete end-organ resistance to androgen; phenotypically female; absent uterus; sparse pubic/axillary hair; testosterone in male range; post-pubertal gonadectomy required.

The most common cause of delayed puberty; a benign familial variant with delayed bone age and low-normal gonadotrophins that resolve spontaneously; requires exclusion of pathological causes.

Absence of breast development by age 13 years, or absence of menarche by age 15 years, or >5 years from thelarche to menarche.

A class of drug that mimics dopamine action at pituitary D2 receptors to suppress prolactin secretion and cause tumour shrinkage; first-line treatment for prolactinoma; examples include cabergoline (preferred) and bromocriptine.

Surgical destruction of the endometrium to reduce or eliminate menstrual bleeding; effective in 80–90% of women; requires completed family; endometrial pathology must be excluded before the procedure.

Abnormal proliferation of the endometrium from prolonged unopposed oestrogen stimulation; classified as without atypia (low malignant potential, ~1–3%/yr progression) or with atypia (8–29% concurrent carcinoma risk; premalignant — hysterectomy recommended).

A syndrome in female athletes comprising three interrelated components: low energy availability (with or without an eating disorder), menstrual dysfunction (including amenorrhea), and reduced bone mineral density; a form of functional hypothalamic amenorrhea.

Progressive vaginal dilation using plastic dilators of increasing size, used to create a functional vagina in MRKH syndrome or after vaginal reconstructive surgery; success rate 80–90%.

Suppression of GnRH pulsatility and hence the HPO axis by energy deficit (weight loss, eating disorders), excessive exercise, or psychological stress; a diagnosis of exclusion with hypogonadotrophic hypogonadism; primary treatment is nutritional rehabilitation and CBT.

Reversible hypogonadotropic hypogonadism caused by low energy availability (anorexia, athlete triad) or chronic illness; GnRH pulse generator is suppressed by low leptin and high cortisol.

Brief, involuntary laughing seizures characteristic of hypothalamic hamartoma; may be the presenting feature before signs of precocious puberty are apparent.

Long-acting GnRH agonist depot injections (leuprolide, triptorelin) used to treat central precocious puberty; continuous non-pulsatile stimulation downregulates GnRH receptors, suppressing LH/FSH and halting pubertal progression.

Subcutaneous GnRH delivered via pump in physiological pulses (every 60–90 minutes); used in Kallmann syndrome to stimulate the pituitary-ovarian axis for puberty induction and fertility treatment.

Gold-standard test to distinguish central from peripheral precocious puberty; exogenous GnRH (or GnRH agonist) is given and LH/FSH are measured; central PP = pubertal LH peak (>5–8 IU/L, LH:FSH >1); peripheral PP = flat LH response.

Central precocious puberty caused by premature HPO axis activation; LH and FSH are at pubertal levels and respond to GnRH stimulation; majority are idiopathic in girls.

Peripheral precocious puberty caused by autonomous sex steroid production independent of the HPO axis; LH and FSH are suppressed; causes include McCune-Albright syndrome, ovarian tumours, and CAH.

Exogenous FSH and LH/hCG injections used to stimulate ovarian development and ovulation in hypogonadotropic hypogonadism (e.g. Kallmann syndrome) when fertility is desired.

Oestrogen-secreting sex-cord stromal ovarian tumour; a cause of peripheral precocious puberty in prepubertal girls; LH/FSH are suppressed; inhibin B is elevated; treatment is surgical.

Accumulation of menstrual blood in the vagina due to outflow obstruction (e.g., imperforate hymen); presents as a cystic midline pelvic mass on ultrasound with cyclical pain.

Blood loss >80 mL per menstrual cycle, or subjectively excessive blood loss interfering with quality of life; replaces the deprecated term 'menorrhagia'.

A state of elevated FSH and LH with low gonadal oestrogen, resulting from ovarian failure; the pituitary increases gonadotrophin output due to absent negative feedback from the ovary. Seen in Turner syndrome and POI.

Delayed puberty due to gonadal failure; FSH and LH are markedly elevated (the pituitary signals but the ovaries do not respond); causes include Turner syndrome, premature ovarian insufficiency, post-irradiation.

A state of low FSH and LH with low oestrogen, resulting from suppressed GnRH pulsatility or pituitary failure; the gonadotrophins are inappropriately low. Seen in functional hypothalamic amenorrhea, prolactinoma, and Sheehan syndrome.

Delayed puberty due to inadequate GnRH/LH/FSH secretion; FSH and LH are low; causes include CDGP, Kallmann syndrome, hypothalamic suppression, pituitary tumours.

Benign ectopic mass of GnRH-secreting hypothalamic tissue; the most common pathological cause of central precocious puberty; may also cause gelastic (laughing) seizures.

The neuroendocrine feedback loop comprising GnRH secretion from the hypothalamus, FSH and LH release from the anterior pituitary, and oestradiol and progesterone production from the ovary; disruption at any level causes menstrual irregularity or amenorrhea.

Surgical division of intrauterine adhesions under direct hysteroscopic vision; the definitive treatment for Asherman syndrome; typically followed by post-procedure oestrogen therapy and a uterine balloon or IUD to prevent re-adhesion.

Direct endoscopic visualisation of the uterine cavity; the gold standard for diagnosis and treatment of intracavitary pathology (polyps, submucosal fibroids, endometrial abnormalities); allows targeted biopsy.

A congenital outflow tract obstruction causing primary amenorrhoea with normal secondary sex characteristics; presents with cyclical pelvic pain and haematocolpos; treated by surgical hymenectomy.

Peptide hormone produced by ovarian granulosa cells; elevated in granulosa cell tumours; used as both a diagnostic marker and a post-surgical tumour surveillance marker.

Bleeding occurring between otherwise regular menstrual periods; a distinct entity from heavy menstrual bleeding; raises concern for cervical or endometrial pathology.

Congenital GnRH deficiency combined with anosmia (absent sense of smell), due to failure of GnRH neuron migration; presents as hypogonadotropic hypogonadism.

Hypothalamic arcuate nucleus neurons co-expressing kisspeptin, neurokinin B, and dynorphin; the GnRH pulse generator whose disinhibition initiates puberty.

The most effective medical treatment for heavy menstrual bleeding, reducing blood loss by 80–90% through local endometrial atrophy from sustained progestogen release; also effective in adenomyosis; brand name Mirena.

Rare cause of peripheral (GnRH-independent) precocious puberty, characterised by the classic triad of polyostotic fibrous dysplasia, café-au-lait skin patches, and autonomous sex steroid production from ovarian cysts.

The first episode of menstrual bleeding, occurring at Tanner stage B4, approximately 2–2.5 years after thelarche (mean age ~12.5–13 yr in India).

Mayer-Rokitansky-Küster-Hauser syndrome — congenital absence of the uterus and upper vagina with normal ovaries and 46,XX karyotype; presents as primary amenorrhoea with normal breast and pubic hair development.

Mayer-Rokitansky-Küster-Hauser syndrome; developmental failure of the Müllerian ducts resulting in absent uterus and upper vagina; karyotype 46XX with normal ovaries and normal secondary sexual characteristics; most common structural cause of primary amenorrhea.

The FIGO 2011 classification system for AUB causes: structural (PALM — Polyp, Adenomyosis, Leiomyoma, Malignancy) and non-structural (COEIN — Coagulopathy, Ovulatory dysfunction, Endometrial, Iatrogenic, Not classified).

The maximum rate of linear growth during the pubertal growth spurt; occurs at approximately Tanner B2–B3 in girls, 6–12 months before menarche.

Autonomous sex steroid production independent of the HPO axis; LH and FSH are suppressed by negative feedback from elevated sex steroids; causes include McCune-Albright syndrome, ovarian tumours, and CAH.

A condition of chronic anovulation with hyperandrogenism, diagnosed by 2 of 3 Rotterdam criteria (oligo/anovulation, clinical or biochemical hyperandrogenism, polycystic ovarian morphology on ultrasound); the most common cause of anovulatory secondary amenorrhea or oligomenorrhea.

Bone lesion in McCune-Albright syndrome where normal bone is replaced by fibrous tissue; causes deformity, pain, and pathological fractures; affects multiple bones (polyostotic).

Any uterine bleeding occurring 12 or more months after the last menstrual period; endometrial carcinoma must be excluded; requires urgent transvaginal ultrasound and endometrial biopsy if thickness ≥4 mm.

Appearance of secondary sex characteristics before age 8 years in girls; classified as central (GnRH-dependent, HPO axis activated) or peripheral (GnRH-independent, autonomous sex steroid production).

Isolated pubic/axillary hair development before age 8 driven by early adrenal androgen secretion; gonadotrophins are prepubertal; monitor for subsequent PCOS and metabolic syndrome.

Depletion or dysfunction of the ovarian follicle pool before age 40; causes hypergonadotropic hypogonadism; causes include autoimmune, iatrogenic (chemotherapy, irradiation), and genetic (FMR1 premutation).

Isolated breast development before age 8 without other pubertal signs; usually benign; gonadotrophins and bone age are normal; requires exclusion of true precocious puberty.

No menarche by age 15 years in the presence of secondary sexual characteristics, or no menarche by age 13 years in the absence of any secondary sexual characteristics (DC Dutta definition).

Administration of exogenous progestogen (e.g., medroxyprogesterone acetate 10 mg × 5–10 days) followed by observation for withdrawal bleed; a bleed indicates oestrogen-primed endometrium and patent outflow; no bleed indicates either hypo-oestrogenism or outflow/uterine obstruction.

A benign prolactin-secreting adenoma of the anterior pituitary; the most common pituitary tumour in women of reproductive age; causes amenorrhea-galactorrhoea syndrome through hyperprolactinaemia-mediated suppression of GnRH pulsatility; treated with dopamine agonists (cabergoline or bromocriptine).

Development of pubic and axillary hair driven by adrenal androgens (adrenarche); normally follows thelarche by 3–6 months.

The developmental process by which a child acquires adult secondary sexual characteristics and reproductive capacity, driven by HPO axis activation.

Ultrasound technique where saline is instilled into the uterine cavity to improve visualisation of intracavitary lesions (polyps, submucosal fibroids); more sensitive than standard TVUS for small intracavitary lesions.

Cessation of previously established menstruation for ≥3 months in a woman with previously regular cycles, or ≥6 months in a woman with previously irregular cycles.

Human chorionic gonadotrophin beta subunit, produced by the syncytiotrophoblast of a developing pregnancy; the first investigation in any woman with amenorrhea to exclude pregnancy (including ectopic) before proceeding with further workup.

Ischaemic necrosis of the anterior pituitary due to severe postpartum haemorrhage causing hypotensive shock; presents with failure of lactation and variable degrees of hypopituitarism (amenorrhea, hypothyroidism, adrenal insufficiency); managed with lifelong hormone replacement.

Fibrous, non-functional ovarian remnants devoid of follicles; found in Turner syndrome and gonadal dysgenesis; produce no oestrogen; FSH and LH are markedly elevated.

Type 0 = pedunculated entirely intracavitary; Type 1 = submucosal with <50% intramural component; Type 2 = submucosal with ≥50% intramural component; types 0–2 are most strongly associated with heavy menstrual bleeding.

46,XY gonadal dysgenesis with phenotypically female appearance; streak gonads produce no hormones; Y chromosome material mandates prophylactic gonadectomy to prevent gonadoblastoma (25–35% risk).

A standardised clinical system (Marshall and Tanner, 1969) that classifies pubertal development into five stages for breast (B1–B5) and pubic hair (PH1–PH5).

The appearance of breast buds (Tanner stage B2), representing the first sign of puberty in most girls, occurring between ages 8–13 years.

Antifibrinolytic agent that inhibits plasminogen activator in the endometrium, reducing menstrual blood loss by ~40–50%; non-hormonal; taken only during menstruation; does not affect cycle regularity.

Chromosomal disorder (45,X) causing gonadal dysgenesis (streak ovaries), hypergonadotropic hypogonadism, primary amenorrhoea, short stature, and characteristic somatic features; the most common cause of primary amenorrhoea with absent secondary sex characteristics.

The most common inherited bleeding disorder (autosomal dominant); affects ~1% of women presenting with heavy menstrual bleeding; diagnosed by von Willebrand factor antigen level and ristocetin cofactor assay.