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OG23.1-3,OG24.1,OG25.1 | Puberty and Menstrual Disorders — Graded Quiz
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A 9-year-old girl is brought by her mother because she has noticed breast budding over the past 6 months. Examination confirms Tanner B2 breast development and Tanner PH2 pubic hair. Height is at the 75th percentile. She has no headaches or visual symptoms. Which of the following is the most appropriate next investigation?
Correct. This child has precocious puberty (secondary sexual characteristics before age 8 — she is 9, so this is borderline but warrants work-up). The combination of bone age X-ray (to assess skeletal maturity and predict adult height loss), GnRH stimulation test (to classify central vs peripheral) and brain MRI (mandatory in all central PP to exclude CNS lesion — 10–15% have a structural cause) is the standard diagnostic triad. Doing only an oestradiol and ultrasound is insufficient without the central/peripheral classification and CNS assessment.
Precocious puberty work-up triad: (1) GnRH stimulation test → classify central vs peripheral; (2) bone age X-ray → quantify skeletal advance; (3) brain MRI → mandatory for all central PP (10–15% have CNS cause). Never omit MRI even in idiopathic cases.
For possible central precocious puberty, the work-up requires: GnRH stimulation test (classify central vs peripheral), bone age (assess skeletal advancement), AND brain MRI (mandatory — 10–15% of central PP have a CNS lesion including hypothalamic hamartoma). Omitting the MRI or doing only ultrasound is incomplete.
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A 12-year-old girl has developed breasts to Tanner B4 and pubic hair PH4. Her mother is concerned because the girl has grown very rapidly over the past 2 years but appears to have slowed down in the last 3 months. What is the most likely explanation for the growth deceleration?
Correct. In girls, the growth spurt occurs early in puberty (Tanner B2–B3) and then decelerates. By Tanner B4, the peak height velocity has already passed, and near-adult height is typically reached 6–12 months before menarche. Growth deceleration at B4 is a normal physiological finding. This is in contrast to boys, where the growth spurt occurs later (Tanner 3–4). This knowledge is important to counsel families who worry that the child has 'stopped growing.'
Girls' growth spurt = early puberty (Tanner B2–B3); near-adult height ~6–12 months before menarche. By Tanner B4, growth has already decelerated — this is physiological, not pathological.
Growth deceleration at Tanner B4 is normal — the growth spurt in girls peaks at Tanner B2–B3, and near-adult height is reached 6–12 months before menarche. This is NOT delayed puberty or GH deficiency.
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A 15-year-old girl presents with no menarche and no breast development. Her FSH is 45 IU/L, LH is 38 IU/L, and oestradiol is very low. Karyotype shows 45,X0. Which additional investigation is most important in her management?
Correct. Turner syndrome (45,X0) is associated with structural cardiac defects, the most serious being aortic root dilation, bicuspid aortic valve, and coarctation of the aorta. Echocardiography alone misses up to 20% of aortic arch anomalies because the arch is behind the trachea and not well visualised on echo. Cardiac MRI is therefore mandatory in addition to echocardiography. While DEXA and TSH monitoring are relevant in Turner's management, cardiac MRI is the single most important additional investigation that is often overlooked.
Turner syndrome management: always add cardiac MRI to echocardiography — echo misses up to 20% of aortic arch anomalies (coarctation, bicuspid valve, aortic root dilation) because the arch is behind the trachea.
Turner syndrome requires cardiac MRI (not just echo) because echo misses aortic arch anomalies (coarctation, bicuspid aortic valve, aortic root dilation) in up to 20% of cases. This is a life-threatening oversight.
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An 18-year-old woman has primary amenorrhoea. She has normal secondary sexual characteristics (B5, PH4). Pelvic examination is normal; ultrasound shows a normal uterus and ovaries. FSH is 3.2 IU/L, LH is 2.8 IU/L, prolactin is normal. Her BMI is 16. She exercises intensively (marathon training). The most likely diagnosis is:
Correct. Normal secondary sexual characteristics + normal anatomy + low-normal FSH/LH (hypogonadotrophic) + low BMI + intense exercise = functional hypothalamic amenorrhoea (FHA). The hypothalamus suppresses GnRH pulsatility in response to energy deficiency and physical/psychological stress. This is part of the female athlete triad (low energy availability, menstrual dysfunction, low bone density). POI would show elevated FSH/LH. PCOS typically shows normal or elevated LH with polycystic ovaries. MRKH has no uterus.
Functional hypothalamic amenorrhoea (FHA): energy deficit/stress → suppressed GnRH pulsatility → low FSH/LH → amenorrhoea. Part of the female athlete triad. Management = restore energy balance, reduce exercise intensity.
Low-normal FSH/LH (hypogonadotrophic) + low BMI + intense exercise + normal anatomy = functional hypothalamic amenorrhoea. POI = elevated FSH/LH; PCOS = polycystic ovaries + androgen excess; MRKH = absent uterus.
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A 7-year-old girl develops pubic hair but NO breast development and NO accelerated growth. Bone age is appropriate for chronological age. Serum DHEAS is mildly elevated, LH and FSH are prepubertal, and oestradiol is low. The most likely diagnosis is:
Correct. Isolated pubic hair (pubarche) without breast development, no bone age advancement, normal height velocity, and mildly elevated DHEAS with prepubertal gonadotrophins is the classic picture of premature adrenarche — an early but benign activation of adrenal androgen secretion. It does not require treatment but warrants follow-up as it may predict later PCOS or insulin resistance. CAH would show markedly elevated 17-hydroxyprogesterone (17-OHP) and virilisation. Central PP shows LH/FSH response on GnRH stimulation.
Premature adrenarche: isolated pubarche without thelarche, normal bone age and height velocity, mildly elevated DHEAS, prepubertal LH/FSH. Benign variant but monitor for PCOS/metabolic syndrome. Distinguish from CAH (elevated 17-OHP) and central PP (LH/FSH activated).
Isolated pubarche + prepubertal LH/FSH + mild DHEAS elevation + no bone age advancement = premature adrenarche (benign). CAH causes marked 17-OHP elevation and virilisation. Central PP would show LH/FSH activation.
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A 34-year-old woman presents with heavy, irregular menstrual bleeding for 4 months. She has a BMI of 38, no intermenstrual bleeding, and no dyspareunia. Transvaginal ultrasound shows a homogeneous endometrium of 14 mm. There are no structural lesions. She is nulliparous and desires future fertility. Which FIGO PALM-COEIN category best fits this presentation?
Correct. Obese (BMI 38), irregular heavy bleeding, no structural lesion on ultrasound — the pattern is consistent with anovulatory cycles, which falls under AUB-O (ovulatory dysfunction). Obesity drives hyperinsulinaemia and oestrogen excess (peripheral conversion in adipose tissue), disrupting the HPO axis. The thick endometrium (14 mm) reflects unopposed oestrogen stimulation. While AUB-M (endometrial hyperplasia/cancer) must be excluded by endometrial biopsy given the thick endometrium and risk factors, the primary classification based on mechanism is AUB-O. An endometrial biopsy is warranted here.
Obesity → anovulatory cycles → AUB-O. Key caveat: thick endometrium (>12 mm) in an obese anovulatory woman = endometrial biopsy mandatory to exclude hyperplasia/AUB-M. Both diagnoses can coexist.
No structural lesion on ultrasound → not AUB-L or AUB-P. Obesity + irregular cycles + no structural cause = AUB-O (ovulatory dysfunction from chronic anovulation). However, the thick endometrium and risk factors warrant endometrial biopsy to exclude AUB-M.
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A 28-year-old woman with heavy cyclical menstrual bleeding has a submucosal fibroid (3 cm, FIGO type 1 — less than 50% intramural). She wishes to preserve fertility. Which management is most appropriate as first-line?
Correct. A submucosal fibroid (AUB-L, FIGO type 0 or 1) in a woman with heavy bleeding who desires future fertility is best managed by hysteroscopic myomectomy. This is the gold standard for submucous fibroids — it removes the structural cause, preserves the uterus, and improves fertility outcomes. UAE is relatively contraindicated when future pregnancy is desired because it can impair ovarian reserve and uterine perfusion. Medical treatment controls bleeding but does not address the structural pathology.
AUB-L (submucosal fibroid, FIGO type 0/1): hysteroscopic myomectomy = definitive structural treatment, fertility-preserving. UAE = reserved for women not desiring future pregnancy. Medical therapy = temporising only.
Submucosal fibroid (AUB-L type 0/1) + fertility desire = hysteroscopic myomectomy. UAE is a good option for heavy bleeding when fertility is NOT desired; it carries risks of ovarian reserve impairment. Medical therapy treats symptoms but not the structural cause.
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A 45-year-old woman presents with intermenstrual bleeding and post-coital spotting for 3 months. Her LMP was 3 weeks ago. On speculum examination, the cervix appears normal. Endometrial biopsy is negative. What is the most critical next investigation?
Correct. Post-coital bleeding (PCB) is the cardinal symptom of cervical pathology — carcinoma of the cervix in particular — until proven otherwise. Even with a macroscopically normal cervix, colposcopy and directed biopsy are required to exclude CIN III / invasive cervical carcinoma. A negative endometrial biopsy does NOT exclude cervical disease. CA-125 is a marker for advanced ovarian cancer and is not diagnostic for cervical cancer. Hysteroscopy evaluates the endometrial cavity, not the cervix.
Post-coital bleeding (PCB) = red flag for cervical carcinoma. Investigation: colposcopy + directed biopsy — mandatory even if cervix looks normal. Do not falsely reassure on macroscopic appearance or a negative endometrial biopsy.
Post-coital bleeding = cervical pathology until proven otherwise. Colposcopy + cervical biopsy is the mandatory investigation regardless of macroscopic appearance. Negative endometrial biopsy does not exclude cervical cancer.
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A 26-year-old woman presents with 8 months of secondary amenorrhoea. She has normal secondary sexual characteristics and a normal BMI. FSH is 18 IU/L, LH is 14 IU/L, oestradiol is low. She has never been pregnant. Karyotype is 46,XX. Which diagnosis requires urgent exclusion?
Correct. Elevated FSH (18 IU/L) and LH with low oestradiol in a 26-year-old with 46,XX karyotype = premature ovarian insufficiency (POI), defined as ovarian failure before age 40. This diagnosis has urgent implications for fertility (specialist referral for egg donation/banking), bone health (HRT to prevent osteoporosis), and cardiovascular risk (long-term oestrogen deficiency). Hypothalamic amenorrhoea would show low or normal FSH/LH. Asherman syndrome shows normal hormones. Sheehan syndrome requires obstetric history.
POI: ovarian failure before age 40 in 46,XX woman. Biochemically: FSH >25 IU/L on TWO occasions (4 weeks apart). Urgent priorities: fertility counselling (egg preservation), HRT until age 50 (protects bones, CV system, cognition).
Elevated FSH/LH + low oestradiol + age <40 + 46,XX = premature ovarian insufficiency (POI). Urgency: fertility counselling (egg preservation), HRT to protect bones and cardiovascular system. Hypothalamic amenorrhoea = low/normal FSH/LH.
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A 23-year-old woman has secondary amenorrhoea for 5 months after a dilatation and curettage (D&C) for a missed abortion. She has normal FSH/LH, normal prolactin, and the progesterone challenge test produces NO withdrawal bleed. Pelvic ultrasound shows a thin endometrium (3 mm). The most likely diagnosis is:
Correct. Post-curettage amenorrhoea + negative progesterone challenge + thin endometrium + normal hormones = Asherman syndrome (intrauterine adhesions / synechiae). The D&C stripped the endometrial basalis, forming adhesions. The progesterone challenge is negative because there is no endometrium to shed — not because of absent oestrogen. This is a compartment IV (uterine/outflow) cause of amenorrhoea. Diagnosis is confirmed by hysteroscopy. Treatment is hysteroscopic adhesiolysis + post-operative oestrogen to regenerate the endometrium.
Asherman syndrome (compartment IV): post-curettage/post-D&C amenorrhoea, normal FSH/LH/prolactin, thin endometrium, negative progesterone challenge. Diagnose: hysteroscopy. Treat: hysteroscopic adhesiolysis + conjugated oestrogen to regenerate endometrium.
Post-curettage + normal hormones + negative progesterone challenge + thin endometrium = Asherman syndrome (uterine adhesions). The negative challenge is from absent endometrium, NOT absent oestrogen — hormone profile is normal. Diagnose with hysteroscopy.
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In the investigation of secondary amenorrhoea, what is the most important initial step before any hormonal testing?
Correct. Pregnancy is the most common cause of secondary amenorrhoea in a woman of reproductive age. It must be excluded FIRST before proceeding to any hormonal investigation. Missing a pregnancy and performing tests like a progesterone challenge or initiating investigations is a clinical and medicolegal error. This is an absolute rule in the amenorrhoea workup algorithm.
Amenorrhoea investigation rule #1: exclude pregnancy with urine/serum beta-hCG FIRST. Only after pregnancy is excluded do you proceed to FSH, LH, prolactin, TFTs, and the progesterone challenge test.
Pregnancy is the most common cause of secondary amenorrhoea. Always check beta-hCG FIRST before any other investigation — this is an absolute rule. Performing a progesterone challenge or hormone panel without excluding pregnancy first is an error.
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A 38-year-old woman presents with cyclical heavy menstrual bleeding, worsening dysmenorrhoea, and a bulky uniformly enlarged uterus on examination. Transvaginal ultrasound shows a heterogeneous myometrium with multiple cystic spaces. The most likely diagnosis and its FIGO AUB classification are:
Correct. Cyclical heavy menstrual bleeding + worsening secondary dysmenorrhoea + diffusely enlarged uterus + heterogeneous myometrium with cystic spaces on ultrasound (myometrial cysts, asymmetric thickening of junctional zone) = adenomyosis. This falls under AUB-A (the 'A' in PALM). Fibroids typically present as a nodular (asymmetric) uterus with well-defined hypoechoic lesions. Endometriosis rarely causes heavy bleeding without associated pelvic disease. Polyps cause focal endometrial thickening on ultrasound.
Adenomyosis (AUB-A): diffuse uterine enlargement, heterogeneous myometrium with myometrial cysts, asymmetric junctional zone. Heavy bleeding + secondary dysmenorrhoea. FIGO PALM category 'A'. Definitive diagnosis = histology (post-hysterectomy), but MRI is best imaging.
Diffusely enlarged uterus + heterogeneous myometrium with cystic spaces + secondary dysmenorrhoea = adenomyosis, classified as AUB-A in the FIGO PALM-COEIN system. Fibroids (AUB-L) are nodular, hypoechoic, and well-defined.
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