REI CASE(S)Laura L. Tatpati, MD

Division of REI, Dept of OB/GYNKUSM - W

CASE #1

➤ 46 year old female presents

with complaint of increased

facial and abdominal hair

growth for 6-8 months.

➤ She has had increased acne.

Her hair stylist noted to her

that she is having hair thinning

at the crown.

➤ She has history of slightly

irregular menstrual cycles but

only 2 in the last 8 months.

WHAT’S THE

DIFFERENTIAL

DIAGNOSIS?

DIFF DX: HIRSUTISM

➤ PCOS (75-80%)

➤ Ovarian tumors (SertoliLeydig, stromal cell) - (0.2%)

➤ Adrenal tumors

➤ Stromal hyperthecosis (severe insulin resistance & mostly

post-menopausal)

➤ Late-onset 21-hydroxylase deficiency

➤ Drugs (androgens, androgenic progestins)

➤ Idiopathic

➤ Luteoma of pregnancy/ hyperreactio luteinalis

PRINCIPAL CAUSES OF HIRSUTISM

➤ Increase in circulating androgens

➤ Ovarian, adrenal, or exogenous

➤ Increase in target hair follicle sensitivity

➤ Due to excess 5α- reductase activity

➤ Normal androgen levels

MAIN CONDITIONS OF EXCESS HAIR

GROWTH➤ Hirsutism: male pattern, affects 5-10%

➤ Virilization: androgenic state

➤ hirsutism, deepening of the voice, breast atrophy, increased muscle bulk, clitoromegaly, increased libido, acne, and male-pattern balding (androgenic alopecia)

➤ Hypertrichosis: diffusely increased total body hair

➤ drugs such as phenytoic, minoxidil, cyclosporine

➤ hypothyroidism, anorexia, malnutrition

HISTORY

SHOULD YOU

OBTAIN?

FURTHER

HISTORY➤ Other symptoms:

➤ Hair loss

➤ Voice deepening

➤ Endocrine ROS

➤ Family history

➤ menstrual, reproductive,

endocrine, cancers

➤ Medications:

➤ Danazol, valproate,

antipsychotics, androgens

IMPORTANT

HISTORICAL

CONTEXT➤ Timing of onset of symptoms

➤ Menstrual history

➤ Tempo of progression of

symptoms

➤ Severity of symptoms

PHYSICAL

FINDINGS WOULD

YOU BE LOOKING

FOR?

PHYSICAL

EXAMINATION➤ Hair Pattern/Distribution

➤ Ferriman-Gallwey

➤ Mediterranean, hispanic, middle eastern

> 9-10

➤ AA/C - >8

➤ Asian > 2

➤ Acne

➤ Male pattern hair loss

➤ Virilization

➤ Clitoromegaly

➤ (L > 10mm, LxW > 35mm2)

➤ Voice deepening

➤ Increased muscle mass

➤ Temporal / Crown balding

SPECIAL

CONSIDERATION

S➤ Acanthosis nigricans

➤ Striae

➤ Easy bruising

TEST WOULD

YOU LIKE TO ORDER

?

YOUR INITIAL TEST RESULT WAS:

TESTOSTERONE - 150 NG/DL

YOU ALSO ORDERED A:DHEAS - 720 MCG/DL

Further evaluation at this point?

TRANSVAGINAL ULTRASOUND

Result : Normal

SUSPICIOUS

FINDINGS➤ large cysts (> 8 cm)

➤ solid masses

➤ complex cysts which do not

resolve in 2-4 wks

➤ **hilus cell / sex cord stream

tumors may not be visible on US

or even at surgery

➤ Sertoli-Leydig

➤ ave. 16cm at dx

➤ 2nd/3rd decade

➤ nearly completely solid without

polycystic appearance and

increased storm - hyperthecosis

CT - ADRENAL GLANDS

Results: left adrenal mass - 6 cm

HOW DO YOU

TREAT HER

HIRSUTISM?

COMMON METHODS FOR HAIR

REMOVAL➤ Permanent:

➤ Electrolysis

➤ Laser

➤ Eflornithine hydrochloride (Vaniqua) improves outcomes

➤ Temporary:

➤ Depilatory

➤ Shaving

➤ Waxing/Bleaching

➤ Prevention for those w/ chronic hyperandrogenism

➤ OCPs

➤ Spironolactone (antiandrogens)

➤ Finasteride (limited data) - $$$

CASE #2

CASE #2

➤ 18 year old female with menses q 1-2 months for 3 years and

none x 4 months

➤ + hirsutism

➤ + acne - utilizes topical antibiotics with some benefit

➤ BMI = 46

➤ Reports fatigue is affecting her grades in college

➤ What is the most likely diagnosis?

WHAT TESTIN

G WOULD

YOU DO?

IRREGULAR

MENSES,

HIRSUTISM➤ hCG

➤ Testosterone

➤ Prolactin

➤ TSH

➤ 17OHP

➤ FSH/E2

CONFIRMED PCOS OR

OTHER RISK FACTORS

➤ A1c or 2h GTT

➤ Fasting lipid profile

➤ Screen for cardiometabolic

risk factors

HOW DO YOU

DIAGNOSE PCOS?

ROTTERDAM CRITERIA

➤ Need 2 of 3

➤ Hyperandrogenism or hyperandrogenemia

➤ Oligo or amenorrhea

➤ Polycystic appearance on US

➤ FNPO > 12, volume > 10cm3

PATHOGENESIS: FUNCTIONAL

OVARIAN HYPERANDROGENISM➤ Complex genetic trait

➤ multiple genetic variants and environmental factors interact

➤ twin studies: monozygotic correlation 71%, dizygotic 38%

➤ 20-40% prevalence in mothers/sisters

➤ Ovarian hyperinsulinemia: upregulate androgen production in

response to LH and stimulates adipogenesis.

➤ Incr androgens causes secondary LH elevation and interferes

w/ negative feedback.

➤ LH aggravates ovarian dysfunction.

GENE ALTERATIONS

➤ Genes regulating gonadotropin secretion/action, insulin

secretion/action, weight/energy regulation; androgen

biosynthesis/action

➤ Altered LH action (incr pulse frequency/amplitude); LH receptor over-

expression in granulosa cells

➤ Granulosa cells prematurely luteinize: overexposed LH receptor,

secrete E2 due to LH inappropriately early; hyper-responsive to FSH

and overproduce E2

➤ Androgen excess from theca cells (enhanced by granulosa

dysfunction) promotes small follicles (increased responsiveness)

➤ Oocyte gene expression dysregulated.

➤ Reduced developmental capacity of oocytes : excessive

androgens and epigenetic metabolic signals

WHAT LONG-TERM

HEALTH CONSIDERA

TIONS SHOULD

YOU ADVISE HER

ABOUT?

4 AREAS OF

CONCERN➤ Infertility

➤ Diabetes/Gestational

DM/Insulin resistance

➤ Dyslipidemia

➤ Uterine

hyperplasia/endometrial

cancer

IN PREMENOPAUSAL WOMEN,

THE MENSTRUAL CYCLE IS A VITAL SIGN!