Sexual Health & Development

full-term newborn noted at delivery to have ambiguous genitalia — an enlarged clitoris with partially fused labioscrotal folds and no palpable gonads. The pregnancy was uncomplicated. On day 3–4 of life the infant develops poor feeding, vomiting, dehydration, and lethargy, and labs show low sodium, high potassium, and low glucose. Karyotype returns 46,XX and the 17-hydroxyprogesterone is markedly elevated, confirming

21-hydroxylase deficiency congenital adrenal hyperplasia (CAH)

classic clue to differences in sexual development in a newborn is

ambiguous genitalia

how does DSD show up in a teenager

no first period

in a genetic female (XX) who has male traits, you should think what dz

21-hydroxylase def CAH

number one cause of ambiguous genitalia

CAH

how does CAH work

adrenal gland can’t make cortisol, so it overproduces androgens that masculinize a genetic woman (enlarged clitoris, fused labia)

salt wasting CAH is an emergency in first 1-2 wks of life, as it presents as

vomiting, dehydration, shock with low sodium, high K, low glucose.

genetic male (XY) who looks female, you should consider

Androgen insensitivity syn (AIS)

what is AIS

body makes test but can’t respond to it, so genetic male has female body with testes in groin and NO uterus

pt is a teen with normal breasts, short or absent vagina, no periods, little/no pubic/underarm hair

AIS

a genetic male who looks femal ecan also be due to

5a-reductase def. a pt that looks female leaning at birth then has male traits at puberty (penis at 12)

turner syn chromosome

45,X

pt has short stature, nonfunctional “streak” ovaries, no period

turner syn

pt is tall, has small firm testes, and gynecomastia, and infertility

klinefelter syn

klinefelter syn chromosome

47,XXY

dx cause of different sexual development

karyotype to check chromosomes

17-hydroxyprogesterone to see if its high in 21 hydroxylase CAH

electrolytes and glucose to catch salt wasting

pelvic US - uterus present. hormone levels (test, luteinizing hormone, FSH/LH)

tx CAH

replace missing hormones w steroid (cortisol) + salt retaining hormone, fludrocortisone. if salt wasting then you need IVF and hydrocortisone immediately

AIS carries a later risk of

tumors

58-year-old woman, 6 years postmenopausal, with several months of pain during intercourse. She describes burning, dryness, and pain at the vaginal opening with penetration (entry pain) rather than deep pain, and is not on hormone therapy. On exam the vaginal mucosa is pale, thin, and dry with loss of rugae; there are no lesions or masses, and the bimanual exam is non-tender. She is diagnosed with

atrophic entry dyspareunia

recurrent or persistent genital pain with intercourse.

dyspareunia

most important step at dx dyspareunia

is it superficial or deep

superficial/entry pain causes of dyspareunia

atrophic vaginitis, vulvodynia/vestibulodynia, vaginismus (involuntary pelvic floor spasm), bad lubrication, vulvar dermatoses (lichen sclerosus/planus), infxn, scarring from delivery/surgery

deep pain causes of dyspareunia

endometriosis, PID/chronic pelvic infxn, adhesions, uterine fibroids, adenomyosis, ovarian path, interstitial cystitis

dx causes for dyspareunia

good hx - entry vs deep, onset (lifelong vs acquired), situational vs every encounter

cotton swab (q tip) test - maps vestibulodynia, assesses for atrophy, lesions, pelvic floor tone

STI testing/wet mount, TVUS (fibroids/adnexal dz), laparoscopy if endometriosis suspected

tx dyspareunia

tx underlying cause, always have lubricants/moisturizers

tx atrophic cause for dyspareunia

vaginal estrogen crm

tx vaginismus cause for dyspareunia

pelvic floor PT + vaginal dilators ± CBT

tx vestibulodynia cause for dyspareunia

topical lidocaine, pelvic floor PT

tx endometriosis cause of dyspareunia

NSAIDs + hormonal supp (combined OCPs), progestin, GnRH agonist

tx PID reason for dyspareunia

abx

tx fibroid reason for dyspareunia

hormonal or surgical management

26-year-old transgender man (assigned female at birth) who has been on testosterone for 2 years and comes in to establish primary care. He has not had genital surgery and still has a cervix and uterus, and asks which cancer screenings he still needs. Because he still has a cervix, he requires

cervical cancer screening w pap. also check HCT to watch for test induced erythrocytosis

what is feminizing (transfeminine) gender affirming hormone therapy

estrogen + an anti androgen (spironolactone).

what does taking estrogen + an anti androgen (spironolactone) do to the body in the process of feminization

breast growth, softer skin, dec body hair, fat redistribution

AE for taking estrogen + an anti androgen (spironolactone).

VTE, and inc PRL and gallstone risk

what should you monitor when a pt is on feminizing meds

estradiol and test

what meds are masculinizing (transmasculine)

testosterone

what does taking testosterone do to a female body in masculinization

voice deepening, facial/body hair, amenorrhea, clitoromegaly

what do you monitor if a pt is taking testosterone for masculinization

HCT for erythrocytosis, plus lipids and BP

if an adolescent is requesting to transition what meds should you give them first

GnRH agonist puberty blockers if tanner >2 with mental health and multidisciplinary involvement before starting irreversible hormones

if a trans pt has a cervix present what maintenance and screening should you give them

pap to test cervix. test causes atrophic changes

if trans pt has breast tissue/ long term estrogen use what should you give them

mammofor early detection of breast cancer.

if trans pt has prostate present what do you screen them for

prostate cancer with PSA tests and digital rectal exams.

what should you always screen trans pts for due to their inc likelihood to do

depression, anxiety, suicidalityand substance use disorders.

34-year-old woman who, 3 months after starting an SSRI (selective serotonin reuptake inhibitor) for anxiety, reports new difficulty with arousal and reaching orgasm. Her libido, mood, and relationship are otherwise good, and the problem began only after the medication was started. Exam and labs are unremarkable, and the dysfunction is attributed to

the SSRI

what are examples of female dysfunctions

sexual interest/arousal disorder, genito pelvic pain/penetration disorder (dyspareunia/vaginismus)

ex of male dysfunctions in sexuality

ED, premature ejaculation, delayed ejaculation, male hypoactive sexual desire

what are medication contributors to changes in human sexuality and desires

SSRIs are the most common reversible cause. also BBs, thiazides, antipsychs, finasteride

what are medical contributors to changes in human sexuality and desires

DM, vascular/cardiac and neuro dz (new ED can be sign of CVD)

what are hormonal contributors to changes in human sexuality and desires

low test, hyperprolactinemia, thyroid disease, menopausal estrogen loss

what are psychological contributors to changes in human sexuality and desires

depression, anxiety, trauma, relationship factors

dx sudden changes in sexual desires

history (onset, lifelong vs acquired, situational vs generalized), review meds, exam

labs when indicated like testosterone, PRL, TSH, glucose/A1c, lipids

tx ED

PDE5 inhibitors like sildenafil

sildenafil is CI when also taking

nitrates

tx premature ejaculation

SSRIs or topical anesthetics.

tx low test

give test

tx hyperprolactinemia

dopamine agonist

m/c reversible cause of sexual dysfxn

SSRIs

new onset ED can be a sign of

CVD

51-year-old woman visiting her PA with concerns about recent changes in her menstrual cycle. She reports that her periods, which were previously regular, have become increasingly irregular over the past year, with her last menstrual period occurring six months ago. She also mentions experiencing frequent hot flashes, night sweats, and occasional mood swings. She denies any vaginal bleeding or discharge. Her medical history is unremarkable, and she is not on any medications. On examination, vital signs are normal. Her FSH is 40, consistent with

menopause

12 or more months of amenorrhea in absence of other pathologic causes

menopause

menopause occurs at the avg age of

51

women spend how long in postmenopausal state

30

transition b/w reproductive capability and menopause. hallmark is irregular menstrual function, lasting 3-5 yrs

perimenopause

premature ovarian insuff occurs at what age

<40 yrs old

if a pt declines estrogen, they cna have sx such as

hot flashes, night sweats, vag dryness/ atrophy, dyspareunia, sleep disturbances, mood changes, bone loss

in an estrogen deficiency in menopause what happens to vaginal pH

rises from 3.5-4.5 to 6-8.

when your vaginal pH inc in menopause what can that cause

vaginitis, atrophic vaginitis specifically

mcc of postmenopausal bleeding

atrophic vaginitis

menopause is defined as

12 mo of amenorrhea after age 40 with no pathologic cuase

what labs support the dx of menopause

FSH >30 with dec estradiol

in women 40-45 or <40 showing signs of menopause what should you do to dx

check b-hCG, PRL, TSH, FSH to r/o other causes

tx menopause if uterus intact

estrogen + progestin combined HRT

if you give a menopausal pt just estrogen inc risk of what ca happens

endometrial ca

tx menopause after hysterectomy

estrogen alone

Hormone therapy inc your risk of

breast ca, MI, stroke, DVT, PE

tx vaginal dryness

OTC lubricants first, then low dose vag estrogen

non hormonal options for vasomotor sx

SSRIs (paroxetine), SNRIs, clonidine, gabapentin, fezolinetant, cool temps, avoid triggers (alc, spicy food)

CI for HRT

inc tris, undx vag bleeding, endo cancer, hx of breast ca or estrogen sensitive cancer, CVD hx, DVT/PE hx

47-year-old woman whose cycles over the past year have become irregular — sometimes 24 days, sometimes 40 — with variable flow. She has hot flashes, night sweats, and disrupted sleep but is still having periods. A pregnancy test is negative and an FSH drawn earlier is noted to fluctuate. She asks whether she still needs contraception. dx

perimenopause

menopausal transition, fluctuating estrogen with irregular cycles plus vasomotor sx before first menstrual period

perimenopause

perimenopause =

irregular cycles + vasomotor sx with continued menses

can you still get preg in perimenopause

yes

can you use FSH to dx perimenopause

no bc it fluctuates

when do pts become perimenopausal

mid 40s, ends 12 months after last period

dx perimenopause

clinically, age + menstrual changes and sx. FSH is bad

tx perimenopause

still use contraception. hormonal. non hormonal tx for sx. SSRIs for vasomotor sx

24-year-old woman with regular 28-day cycles using fertility-awareness methods who asks when she is most likely to conceive. She has noticed a small rise in her basal body temperature in the middle of her cycle. how does this process work

LH surge triggers ovulation at day 14, fertile window is days before, and temp rise is the progesterone inc after ovulation

what drives the 28 day mesntrual cycle

hypothalamic pituitary ovarian axis (GnRH → FSH/LH → ovarian estrogen/progesterone)

how to describe the menstural cycle

oavrian phases (follicular→ ovulation→ luteal) paralleled by endometrial phases (menstrual→ proliferative→ secretory)

LH surge triggers ovulation at what day

14

follicular phase is

days 1-14

FSH→ follicle growth→ inc estrogen

drives the proliferative endometrium

how does ovulaiton occur

sustained estrogen peak becomes positive feedback→ LH surge→ ovulation (day 14)

luteal phase is

days 14-28

corpus luteum secretes progesterone

secretory endometrium

basal body temp rises 0.5 after ovulating

if there is no pregnancy in the uterus what happens to the uterus

corpus luteum shrinks→ dec progesterone and estrogen→ menses

what happens to the uterus if a pregnancy occurs

hCG rescues the corpus luteum to prevent it from shrinking

what phase of the menstrual cycle allows for the cycle to range in timing

follicular phase. the luteal phase is always 14 days

11-year-old girl brought in by her mother, who noticed breast development starting about 6 months ago. She is otherwise well and growing along her curve. On exam she has Tanner stage 2 breast buds with early pubic hair and has not yet had her first period. You reassure them that thelarche (breast budding) is

the first sign of puberty

how do pts measure puberty

tanner scale stages 1-5, where 1 is before puberty and 5 is a full adult

first sign of puberty in women

thelarche