Hormone Resistance Syndromes

Question 1

How does LH-R manifest in men vs. women?

Answer 1

Male: pseudohermaphraditism (low testosterone–>failure to develop male structures)
Female: Ovarian resistance

Question 2

How does FSH-R manifest in men vs. women?

Answer 2

Male: infertility (testosterone; but no Sertoli cells for spermatogenesis)
Female: ovarian resistance (no follicles to produce estrogen)

Question 3

GH-R Restance: clinical features (4), Hormone levels and Rx

Answer 3

Short stature, frontal bossing, high pitched voice, obesity
High GH, low IGF-1
Rx: IGF-1

Question 4

Androgen Insensitivity Syndrome

Answer 4

XY genotype with female external phenotype
Inguinal testes
Absent uterus (testes still secrete AMH)
High testosterone, LH

Question 5

AIS: Key Points

Answer 5

Wide phenotypic spectrum
Management involves psychosocial as well as hormonal issues
Distinguishes roles of T, MIS, DHT (5a-reductase)

Question 6

Estrogen-R Resistance in Male: Clinical features (6)

Answer 6

Tall stature, prolonged linear growth, bone mineral density low, impaired glucose tolerance, abnormal lipid profile, early coronary atherosclerosis

Question 7

ER Restistance in Females: Cliical features (5)

Answer 7

Tanner 1 breasts
Tanner 4 pubic hair
Cystic ovaries
Low BMI/BMD
High estradiol, nl LH/FSH

Question 8

RTH Resistance:

Answer 8

Dominant negative: mutated receptor messes with normal receptor leading to pathogenesis

T4 builds up and is converted to TRa–>tachycardia