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Flashcards in Disorders of Sexual Development Deck (34):
1

What is the karyotype of a patient with Klinefelter syndrome?

47,XXY

2

Detail the body habitus of a male with Klinefelter syndrome.

Testicular atrophy
Tall
Long extremities
Gynecomastia
Female hair distribution

3

What are the LH and FSH levels of a patient with Klinefelter syndrome?

Increased- lack inhibin and testosterone

4

What is the karyotype of a patient with Turner syndrome.

45,XO

5

Detail common clinical findings associated with Turner syndrome.

Shield chest
Webbed neck (lymphatic defects)
Bicuspid aortic calve
Preductal coarctation (femoral pulse is less than brachial pulse)
Horseshoe kidney

6

What is the most common cause of primary amenorrhea?

Turner syndrome

7

What are the LH and FSH levels of a patient with Turner syndrome?

Increased- decreased estrogen

8

Detail the sexual development of an individual with androgen insensitivity syndrome.

Female external genitalia with a short vagina
Absence of Mullerian structures (due to production of AMH from testes)
Lack of Wolffian structures

9

Detail the lab findings for T/LH in a patient with androgen insensitivity syndrome.

High T
High LH

10

Detail the lab findings for T/LH in a patient with a testosterone secreting tumor or exogenous steroid use.

High T
Low LH

11

Detail the lab findings for T/LH in a patient with primary hypogonadism.

Low T
High LH

12

Detail the lab findings for T/LH in a patient with hypogonadotropic hypogonadism.

Low T
Low LH

13

Detail the phenotype of a 46XX female with aromatase deficiency.

Masculinization of infants (ambiguous genitalia)
Mother may present with virilization (fetal androgens cross the placenta)

14

Do patients with androgen insensitivity have testes?

Yes, must be removed to prevent malignancy

15

What is Kallmann syndrome?

Form of hypogonadotrophic hypogonadism
Results from defective migration of GnRH cells and formation of olfactory bulb
Low sperm counts in males
Amenorrhea in females

16

What is the most common DSD in a 46XX fetus?

21-hydroxylase deficiency

17

Detail the presentation of a XX patient with 21-hydroxylase deficiency.

Salt wasting (infant)
Precocious puberty (childhood)
Virilization
(note, presentation depends on degree of enzyme deficiency)

18

What CAH causes salt retention?

17α-hydroxylase
11β-hydroxylase

19

What is the phenotype of a 46XX patient with 11β-hydroxylase deficiency?

Virilization

20

What is the phenotype of a 46XY patient with 17α-hydroxylase deficiency?

Ambiguous genitalia
Undescended testes

21

What is the phenotype of a 46XX patient with 17α-hydroxylase deficiency?

Present with lack of secondary sexual characteristics at puberty

22

All CAH are characterized by what change in the adrenal glands?

Enlargement- increased ACTH due to lack of cortisol

23

Contrast gonadarche and adrenarche.

Gonadarche- re-emergence of hypothalamic GnRH secretion which stimulates gonadotropes to secrete FSH and LH
Adrenarche- maturation of adrenal gland and production of adrenal androgens

24

What is the first physical sign of puberty in boys and girls?

Boys- testicular enlargement
Girls- breast bud development

25

What is the normal age on onset of puberty in boys?

9-14

26

What is the normal age of onset of puberty in girls?

Caucasian- 8-13
African-American/Hispanics- 1 year earlier

27

Delayed puberty is defined as the lack of onset or lack of normal progression of puberty. What physical findings in boys is associated with delayed puberty?

No testicular enlargement by age 14

28

Delayed puberty is defined as the lack of onset or lack of normal progression of puberty. What physical findings in girls is associated with delayed puberty?

No breast development by age 13
No menses 4 years after pubertal onset
No menses by age 16

29

The approach to delayed puberty is to categorize based on gonadotropin status. Elevated gonadotropins (hypergonadotropic hypogonadism) indicate primary gonadal failure, and low gonadotropins (hypogonadotropic hypogonadism) indicate hypothalamic or pituitary immaturity or dysfunction. What is the most common cause of delayed puberty associated with low gonadotropins?

Constitutional growth delay (late bloomers)

30

When can the diagnosis of precocious puberty be made?

When puberty begins before defined lower age limits

31

Complete precocious puberty is defined by early onset, and progression, of pubertal development. What can happen in children with regards to their height in this situation?

Growth plates can close early- short stature

32

Precocious puberty occurs more commonly in girls but the majority of affected girls will have no identifiable abnormality (idiopathic). The prevalence of precocious puberty in boys is significantly lower, but 50% of affected boys will have what type of lesion?

CNS lesion- central precocious puberty

33

What test can be ordered to distinguish between central and peripheral precocious puberty?

GnRH stimulation test
Pubertal response = central
Prepubertal response = peripheral

34

How can central precocious puberty be treated?

GnRH analog (leuprolide)