Sexual Development Flashcards
What are the RFs for an undescended testicle?
Fhx
Low birth weight
Prematurity
Genital abnormalities
How is an undescended testicle treated?
May descend spontaneously in first 6m
Orchidoplexy to fix into scrotum
What are the complications of an undescended testicle?
Inc risk of testicular cancer
Testicular torsion
Infertility/subfertility
Reabsorbed: No further action
When do the testicles normally descend?
During 1st trimester
What are the signs of an undescended testicle?
Palpable undescended testis: Usually at external inguinal ring
Impalpable testis: Intraabdominal/absent/ inside inguinal canal,
How is cryptorchidism investigated?
Examination: Palpation
Impalpable: Laparoscopy
How does the genitalia form?
Fetal gonad is biopotential
M: Testis determining gene on Y chromosome responsible for differentiation of the gonad
Testosterone & dihydroT cause development of male genitalia
Antimulerian hormone inhibits uterus & fallopian tube formation
F: In the absence of SRY gonads become female genitalia
What are the signs & symptoms of ambiguous genitalia?
Girls: Ambiguous genitalia Enlarged clitoris Common urogenital sinus Internal female organs are normal Boys: No signs at birth, salt loss, virilisation at 2-4y
How are ambiguous genitalia investigated?
Genetics: FISH for X & Y chromosomes, karyotyping
Bloods: U&Es, Glucose, LH, FSH, Testosterone
USS Pelvis & Abdomen
Corticotrophin stimulation tests
How are ambiguous genitalia managed?
Gender assignment Hormone supplement IM Testosterone if phallic size <2.5cm Surgery: Vaginoplasty, Clitoral reduction, Penile enlargement Psychological support
What is precocious puberty?
Early & Rapid onset of puberty
<8 in girls- 80% girls this is benign
<9 in boys-Not likely to be idiopathic
What is thelarche & pubarche?
T: Breast development
P: Pubic hair
Not true signs of precocious puberty as no inc in sex steroids or height velocity
What are the investigations for precocious puberty?
Bloods: LH & FSH, OE & testosterone, Androgen Urine: Steroid profile Bone age x-ray Pelvic, Abdo, Adrenals USS MRI brain Height & weight Tanner Score/staging
What is the management of precocious puberty?
Central: Long acting GnRH analogue SC/IM monthly (Prostate/Zoladex/Decapeptyl)
Overstimulate the pituitary
Reduce FSH & LH
What are the complications of precocious puberty?
Short Stature
How is precocious puberty classified? What are the causes for each?
-Central: GONADOTROPHIN DEPENDENT, idiopathic, intracranial tumours, other CNS lesions,
Secondary central: GONADOTROPHIN INDEPENDENT, early maturation of hypothalamic pituitary gonadal axis by LT sex steroid exposure
-Peripheral: HCG secreting tumours, ovarian & testicular tumours, congenital adrenal hyperplasia, iatrogenic
What factors are needed to diagnose precocious puberty?
- Lab finding of inc sex steroid production
- Increased growth rate
- Progressive pubertal development
What is delayed puberty?
Lack of initiation & progress of pubertal development
> 2SD than the average:
>14y for females
>16y for males
How is delayed puberty investigated?
Tanner staging Height, weight, head circumference Bloods: LH & FSH, OE, Testosterone, TFTs, CRP Karyotyping Bone age X-ray Pelvic & Abdo USS hCG test GnRH test
What are the causes of delayed puberty?
-Constitutional delay
-Hypogonad hypogonadism
Congenital: Isolated LH & FSH, hypopituitarism, Prada-Willi, congenital adrenal hypoplasia
Acquired: Anorexia, intracranial tumours, cranial RT, Chronic disease (IBD), traumatic brain injury
-Primary gonadal failure (hypergonad hypogonadism)
Congenital: LH resistance, Chromosome disorder (Turner’s, Kleinfelter’s), gonadal dysgenesis, disorder of steroid biosynthesis (congenital adrenal hyperplasia)
Acquired: Chemo, gonadal RT & infection (mumps), autoimmune, gonadal torsion/trauma, cranial RT
How is delayed puberty managed?
Constitutional: Nothing or Short course of sex steroid therapy: 50mg Testosterone IM monthly 4-6m
Deficiency: 2-3y sex steroids B: Testosterone IM 50mg 4-6w then 250mg every 3-4w, G: Ethinylestradiol PO 2mcg/day then 5-20mcg/day
What is tanner staging for girls?
- 5yo
1: Papilla elevated - Breast bud elevation of breast & papilla, sparse hair on labia, peak height velocity
- Breast & areola enlarge, darker curlier pubic hair
- Areola forms 2nd mound on breast, menarche, adult pubic hair in smaller area
- Mature breasts, only papilla projects, pubic hair to medial thighs
What is the tanner staging for boys?
12y
- Prepubertal genitals, testicular vol <4ml
- Scrotum & testes enlarge, sparse long pigmented hair at base of penis, TV 4-8ml, voice changes
- Penis lengthens, dark hair spreads, axillary hairs, TV 8-10ml
- Inc penis length & breadth, adult pubic hair in smaller area, upper lip hair, peak height velocity, TV 10-15mls
- Adult size penis, hair to medial thighs, facial hair to cheeks, adult voice, TV 15-25mls
What is congenital adrenal hyperplasia?
Familial Autosomal recessive disorder
Enzyme defect in steroid pathway leading to biosynthesis of androgens, cortisol, aldosterone
Dec Cortisol= inc ACTH from ant pituitary = adrenal hyperplasia
What are the causes of CAH?
21a-hydroxylase (CYP21) MOST COMMON- deletions on chr6p
11b-hydroxylase (CYP11)
3b-hydroxysteroid dehydrogenase
What are the signs & symptoms of CAH?
Classic: Salt-wasting= acute adrenal crisis in early infancy, masculinisation of external genitalia
Non-classic: Females- mild androgen excess at/around puberty
How is classic CAH diagnosed?
Elevated plasma 17-hydroxyprogesterone
Elevated plasma 21-deoxycortisol
Inc urinary adrenocorticosteroid metabolites
REGARDLESS of age, severity, sex
What can be seen in salt wasting CAH?
Hyponatraemia
Hyperkalaemia
Metabolic acidosis
How is CAH managed?
Glucocorticoid replacement therapy: Hydrocortisone PO 15mg/m2/day in 3-4 divided doses
Salt wasting: Mineralocorticoid- Fludrocortisone PO 50-300micro/day
NaCl: Resistant to mineralocorticoids seen in infancy. PO added to feed 2-10mmol/kg/day
Urogenital surgery
