Puberty

Question 1

What body weight is needed before menses begin?

Answer 1

85-106 lbs

Question 2

What is Mullerian agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome)?

Answer 2

Embryologic underdevelopment of mullerian duct, resulting in agenesis of vagina, uterus, or both

Question 3

What is Kallmann syndrome?

Answer 3

Olfactory tract hypoplasia and arcuate nucleus does not secrete GnRH

Presents with no sense of smell and no secondary sex characteristics: anosmia with delayed puberty

Question 4

What is true precocious puberty?

Answer 4

Diagnosis of exclusion where sex steroids are increased by hypothalamic-pituitary-gonadal axis, with increased pulsatile GnRH secretion

Usually associated with CNS abnormalities that include various tumors, hamartomas, acquired CNS injury, or congenital anomalies

Question 5

How would congenital adrenal hyperplasia during neonatal period present?

Answer 5

Ambiguous genitalia
High DHEA and DHEAS

Question 6

What is idiopathic isosexual precocious puberty?

Answer 6

GnRH-dependent; appropriate but early order of pubertal events

Question 7

What is McCune Albright Syndrome?

Answer 7

Premature menses before breast and pubic hair development

Classic triad:
Cafe-au-lait
Polyostotic fibrous dysplasia
Autonomous endocrine hyperfunction (gonadotropin-independent precocious puberty)

Question 8

What causes an imperforate hymen?

Answer 8

Incomplete genital plate canalization –> isolated atresia of vagina or cervix

Menstrual blood collects in vagina and uterus, causing amenorrhea, pain, and bluish colored bulge pushing at labia

Question 9

What is the phenotype of 5-alpha reductase deficiency?

Answer 9

Male external genitalia appear phenotypically female until puberty, where testosterone causes virilization and prevents breast development

Testicles still functional

Prostate small/absent

Dihydrotestosterone is not produced from testosterone

Question 10

How does androgen insensitivity syndrome (AIS) phenotypically appear?

Answer 10

Males appear phenotypically female through puberty and have breast development; no acne or pubic hair development

Question 11

What workup should patients with mullerian agenesis undergo?

Answer 11

Renal ultrasonography - to evaluate renal tract

Question 12

What precursor do external genitalia develop from?

Answer 12

Genital tubercle