Slide No. 9: (2 Marks)Slide No. 9: (2 Marks)A 15 years female complaining of delayed menarche: A 15 years female complaining of delayed menarche: FindingsFindings(A) Inspection of abdomen (B) Inspection of vulva(A) Inspection of abdomen (B) Inspection of vulva

Most Probable Diagnosis: Most Probable Diagnosis: Imperforate Imperforate HymenHymen

Treatment: Treatment: Hymenectomy or Hymenectomy or HymontomyHymontomy

Slide No. 5: (2 Marks)Slide No. 5: (2 Marks)

Before surgery During surgery

•What is your diagnosis? Imperforate Hymen

•The most serious complication of this operation: Infection

A 16-years girl with delayed menarche

Slide No. 7Slide No. 7::

Name three possible complains?1. Hirsutism.2. Oligmenorrhea / amenorrhea.3. Infertility.

Laparoscopy

Ultrasonography

Ovarian findings

Gross appearance

SLIDE 1SLIDE 1

SLIDE 2SLIDE 2

SLIDE 9SLIDE 9

UTERUTERUSUS

Local Examination

During surgery

UltrasonographyAbdominal Examination

Imperforate hymen

15% 15% of 1ry amenorrhea of 1ry amenorrhea Normal breasts and Sexual Hair Normal breasts and Sexual Hair

development & Normal looking development & Normal looking external female genitaliaexternal female genitalia

Normal female range testosterone Normal female range testosterone levellevel

Absent uterus and upper vagina & Absent uterus and upper vagina & Normal ovariesNormal ovaries

Karyotype 46-XXKaryotype 46-XX 30% renal,10% skeletal and 30% renal,10% skeletal and

middle ear anomaliesmiddle ear anomalies Treatment : STERILE ? Vaginal Treatment : STERILE ? Vaginal

creation(Dilatationcreation(DilatationVSVSVagino-Vagino-plasty)plasty)

X-linked recessive gene. X-linked recessive gene. Absent cytosol receptorsAbsent cytosol receptors Normal breasts but no Normal breasts but no

sexual hairsexual hair Normal looking female Normal looking female

external genitaliaexternal genitalia Absent uterus and upper Absent uterus and upper

vaginavagina Karyotype 46, XYKaryotype 46, XY Male range testosterone Male range testosterone

levellevel Treatment : gonadectomy Treatment : gonadectomy

after puberty + HRTafter puberty + HRT ? Vaginal creation ? Vaginal creation

(dilatation (dilatation VSVS Vaginoplasty )Vaginoplasty )

Slide No. 10: (2 Marks)Slide No. 10: (2 Marks)A 18-years girl with primary amenorrhea

OvaryUterus

146

cm.

•What is the most probable diagnosis: Turner’s syndrome

•Sure diagnosis is by: Karotyping (45 0X)

Mosaic (46-XX / 45-XO) (Classic 45-XO)

Turner’s syndrome

Ovarian dysgenesisOvarian dysgenesis

FSH Serum level

Low / normal

High

Hypogonadotropichypogonadim

Gonadal dysgenesis

•• Normal hightNormal hight• • Normal external and internal Normal external and internal

genital organs (infantile)genital organs (infantile)• • Low FSH and LHLow FSH and LH• • MRI to R/O intra-cranial MRI to R/O intra-cranial

pathology.pathology.• • 30-40% anosmia (kallmann’s 30-40% anosmia (kallmann’s

syndrome)syndrome)• • Sometimes Sometimes constitutional constitutional

delaydelay• • Treat according to the cause Treat according to the cause

(HRT), potentially fertile.(HRT), potentially fertile.

Clinical suspicion : Clinical suspicion : Hirsutism, truncal obesity, Hirsutism, truncal obesity, purple striae,purple striae, BP BP

If Suspicion is high : If Suspicion is high : dexamethasone dexamethasone

suppression test (1 mg PO suppression test (1 mg PO 11 pm ) and obtaine 11 pm ) and obtaine serum cortisol level at 8 serum cortisol level at 8 am : am :

< 5 < 5 µµg/ dl excludes g/ dl excludes cushingcushing’’ss

24 hours total urine free 24 hours total urine free cortisol level to confirm cortisol level to confirm diagnosisdiagnosis

2 forms ; adrenal tumour 2 forms ; adrenal tumour or ACTH hypersecretion or ACTH hypersecretion (pituitary or ectopic site)(pituitary or ectopic site)

Clinical suspicion : Clinical suspicion : Hirsutism, truncal obesity, Hirsutism, truncal obesity, purple striae,purple striae, BP BP

If Suspicion is high : If Suspicion is high : dexamethasone dexamethasone

suppression test (1 mg PO suppression test (1 mg PO 11 pm ) and obtaine 11 pm ) and obtaine serum cortisol level at 8 serum cortisol level at 8 am : am :

< 5 < 5 µµg/ dl excludes g/ dl excludes cushingcushing’’ss

24 hours total urine free 24 hours total urine free cortisol level to confirm cortisol level to confirm diagnosisdiagnosis

2 forms ; adrenal tumour 2 forms ; adrenal tumour or ACTH hypersecretion or ACTH hypersecretion (pituitary or ectopic site)(pituitary or ectopic site)

11o o or 2or 2o o Amenorrhea is often first signAmenorrhea is often first sign A body mass index (BMI) <17 kg/mA body mass index (BMI) <17 kg/m²²

menstrual irregularity and amenorrheamenstrual irregularity and amenorrhea Hypothalamic suppression Hypothalamic suppression Abnormal body image, intense fear of Abnormal body image, intense fear of

weight gain, often strenuous exerciseweight gain, often strenuous exercise Mean age onset 13-14 yrs (range 10-21 yrs)Mean age onset 13-14 yrs (range 10-21 yrs) Low estradiol Low estradiol risk of osteoporosis risk of osteoporosis Bulemics less commonly have amenorrhea Bulemics less commonly have amenorrhea

due to fluctuations in body wt, but any due to fluctuations in body wt, but any disordered eating pattern (crash diets) can disordered eating pattern (crash diets) can cause menstrual irregularity.cause menstrual irregularity.

Treatment : Treatment : body wt. (Psychiatrist referral) body wt. (Psychiatrist referral)

11o o or 2or 2o o Amenorrhea is often first signAmenorrhea is often first sign A body mass index (BMI) <17 kg/mA body mass index (BMI) <17 kg/m²²

menstrual irregularity and amenorrheamenstrual irregularity and amenorrhea Hypothalamic suppression Hypothalamic suppression Abnormal body image, intense fear of Abnormal body image, intense fear of

weight gain, often strenuous exerciseweight gain, often strenuous exercise Mean age onset 13-14 yrs (range 10-21 yrs)Mean age onset 13-14 yrs (range 10-21 yrs) Low estradiol Low estradiol risk of osteoporosis risk of osteoporosis Bulemics less commonly have amenorrhea Bulemics less commonly have amenorrhea

due to fluctuations in body wt, but any due to fluctuations in body wt, but any disordered eating pattern (crash diets) can disordered eating pattern (crash diets) can cause menstrual irregularity.cause menstrual irregularity.

Treatment : Treatment : body wt. (Psychiatrist referral) body wt. (Psychiatrist referral)

Common in women who Common in women who participate in sports (e.g. participate in sports (e.g. competitive athletes, ballet competitive athletes, ballet dancers)dancers)

Eating disorders have a higher Eating disorders have a higher prevalence in female athletes prevalence in female athletes than non-athletesthan non-athletes

Hypothalamic disorder caused by Hypothalamic disorder caused by abnormal gonadotrophin-releasing abnormal gonadotrophin-releasing hormone pulsatility, resulting in hormone pulsatility, resulting in impaired gonadotrophin levels, impaired gonadotrophin levels, particularly LH, and subsequently particularly LH, and subsequently low oestrogen levelslow oestrogen levels

Common in women who Common in women who participate in sports (e.g. participate in sports (e.g. competitive athletes, ballet competitive athletes, ballet dancers)dancers)

Eating disorders have a higher Eating disorders have a higher prevalence in female athletes prevalence in female athletes than non-athletesthan non-athletes

Hypothalamic disorder caused by Hypothalamic disorder caused by abnormal gonadotrophin-releasing abnormal gonadotrophin-releasing hormone pulsatility, resulting in hormone pulsatility, resulting in impaired gonadotrophin levels, impaired gonadotrophin levels, particularly LH, and subsequently particularly LH, and subsequently low oestrogen levelslow oestrogen levels