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M2 Endo/Repro > Male Abnormal Puberty - Marifke > Flashcards

Male Abnormal Puberty - Marifke Flashcards

1
Q

Define premature male puberty

A

Onset of pubertal development at an age earlier than expected based upon established normal standards

In the US, this is generally considered <9 years old

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2
Q

Give the Tanner Stage of each of the following:

  • Enlargement of the scrotum and testes with reddening and textural changes of the scrotal skin
  • Prepubertal
  • Increased size of penis with further growth of the testes
  • Adult genitalia
  • Increased size of the penis with growth in breadth and development of the glans, testes, and scrotum. The scrotum skin darkens.
A
  • Stage 2
  • Stage 1
  • Stage 3
  • Stage 5
  • Stage 4
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3
Q

By approximately what age (on average) should boys reach Tanner Stage 5?

A

~15

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4
Q

What is GDPP?

Is this more common in boys or girls?

A

Early maturation of the hypothalamic-pituitary-gonadal axis, resulting in premature puberty

Most idiopathic cases are in girls (80% of cases are idiopathic)

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5
Q

Give some causes of GDPP

A

Idiopathic

Hamartoma (benign, most frequent CNS tumor in very young children)

Other CNS tumors: astrocytoma, ependymoma, pinealoma, optic and hypothalamic glioma

CNS irritation or lesions: hydrocephalus, cysts, trauma, inflammatory disease, congenital midline defects

Genetics: Kisspeptin 1 gene and KISS-1R (gain on function mutations); MKRN3 (loss of function)

Primary hypothyroidism

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6
Q

Give (7) broad underlying causes of GIPP

A
  • Leydig cell tumors
  • HcG-decreting germ cell tumors
  • Familial male limited premature puberty
  • Adrenal pathologies
  • Exogenous estrogen
  • Pituitary gonadotropin secreting tumors
  • McCune Albright syndrome
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7
Q

Describe the Isosexual form of GIPP

A

Leydig cell tumors or

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8
Q

What is the classic triad of McCune Albright syndrome?

A
  • Peripheral premature puberty
  • Care au lait skin pigmentation
  • Fibrous dysplasia of bone
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9
Q

What enzymatic defects of adrenal steroid biosythesis might lead to GIPP?

A
  • 11-beta hydroxylase deficiency
  • 3-beta hydroxysteroid dehydrogenase type II deficiency
  • Hexose 6 phosphate dehydrogenase deficiency
  • PAPSS2 deficiency
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10
Q

What is incomplete premature puberty?

A

Premature puberty due to increased adrenal androgen production with isolated male hormone mediated sexual characteristics

Can manifest as premature andrenarche or premature thelarche (breast development)

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11
Q

Describe premature adrenarche and premature thelarche in terms of:

  • Gonadotropin levels
  • LH response after GnRH stimulation
  • Sex steroid hormone levels
  • Clinical features
  • Additional evaluation required
A

Premature adrenarche

  • Prepubertal LH levels
  • No LH response to GnRH stimulation
  • elevated DHEAS (Tanner 2, >50ug/dL), 17-OHP and testoerone normal, early pubertal response to ACTH
  • No other signs of pubertal development; normal growth rate. Onset after 6 years of age. Associated frequenyly with brain injury, obesity, SGA (smalle for gestational age)
  • Monitor for possible early signs of full puberty

Premature thelarche

  • Prepubertal LG levels
  • No LH response, normal FSH response
  • Pre-pubertal sex steroid levels
  • No other signs of pubertal development; growth rate normal
  • Monitor for possible early progression to full puberty
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12
Q

Describe the evaluation of GDPP in terms of:

  • Gonadotropin levels
  • LH response to GnRH stimulation
  • Sex steroid hormone levels
  • Clinical features
  • Additional evaluation required
A
  • Pubertal levels with prominent LH pulses during sleep (LH>0.6IU/L)
  • Pubertal response: LH >7IU/L
  • Pubertal values of estradiol (>9ph/mL), testosterone (20-1200 ng/dL) and DHEAS
  • Early pubertal development, but with normal progression timing and sequence. Includes enlargement of the testes or ovaries/uterus. Bone age is greater than chronological age
  • Evaluate with contrast MRI to rule out CNS abnormality, measure hCG in boys to rule out hCG-secreting tumor, examine skin and do skeletal survey to rule out McCun-Albright syndrome
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13
Q

The giant table on slide 21 crits you for 42 nature damage and knocks you prone. Despite this, you can name the one unifying diagnostic feature of all 9 listed etiologies of GIPP. What is it?

A

Absent LH response to GnRH stimulation test

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14
Q

In the setting of GIPP (premature puberty unresponsive to GnRH test), you observe elevated hCG and a mediastinal mass. What disease are you immediately suspicious of and what test(s) should you order next?

A

Klinefelter syndrome

Order karyotype and testicular ultrasound

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15
Q

Broadly, what is the treatment approach to GDPP?

A

Direct therapy for the underlying pathology (if identifiable). This may inlcude surgery (except for benign hypothalamic hamartoma -> does not require surgery)

GnRH agonist

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16
Q

What is the primary goal of treatment for any premature puberty disorder?

A

Achieve normal adult height

17
Q

What is an example of a drug used as a GnRH agonist?

How is it given?

How long should therapy last?

When does puberty ‘re-appear’ following termination of treatment?

A

Leuprolide - initially stimulates, then causes complete (reversible) suppression of pituitary gonadotropins

Given once monthly by IM injection (‘depot’) 0.3mg/kg (or start 11.25mg and titrate upwards)

Continue until about 12 years of age (variable depending on bone age, height, and ‘social desire to join peers in puberty’)

Normal puberty returns ~17 months after cessation of therapy

18
Q

Broadly, what is the treatment strategy for GIPP?

Give some examples

A

Address the underlying cause

Congenital adrenal hyperplasia: glucocorticoid therapy

McCune-Albright: anti-androgens with aromatase inhibitor

Familial Male Limited Premature Puberty: spironolactone, an anti-androgen, and testolactone (aromatase inhibitor)

Secondary GDPP (consequence of GIPP treatment): GnRH agonist therapy

19
Q

What is the treatment approach for Incomplete premature puberty?

A

No therapy required. Follow closely.

20
Q

Name (4) GnRH agonists

A

Histreline acetate

Leuprolide

Goserelin

Triptorelin

21
Q

Define delayed male puberty

A

Absence or incomplete development of secondary sexual characteristics based on an age where 95% of peers have initiated sexual maturation (>14 years of age in USA)

22
Q

Broadly, what is the treatment approach to any etiology of delayed male puberty

A

Address underlying cause (if possible)

Watchful waiting

Androgen therapy

23
Q

What is the most common etiology of delayed male puberty?

Name three others

A

Constitutional delay (53%)

Functional hypogonadotropic hypogonadism (19%) -> illness or stress-driven

Hypogonadotropic hypogonadism (12%)

Hypergonadotropic hypogonadism (13%)

24
Q

Describe the major features of Klinefelter’s Syndrome

A
  • Long bone abnormalities of leg (independent of testosterone deficiency)
  • Psychosocial abnormality involving social interactions (poor insight/judgement)
  • Impairment of higher-level linguistic competence (vocabulary and language intact)
  • Attention deficit and impulsiveness
  • Increased risk of certain diseases, including
    • Pulmonary diseases (bronchitis, bronchiectasis, emphysema)
    • Cancer (germ cell, breast, NHL)
    • Varicose veins
    • SLE
    • Diabetes mellitus
25
Q

What is observed with primary hypogonadism? What disease should be considered in the differential?

What is observed with secondary hypogonasism?

A
  • Primary: low testosterone and/or sperm with high LH and FSH
    • consider karyotyping for Klinefelter’s Syndrome
  • Secondary: low testosterone and/or sperm with low or inappropriately normal LH and FSH
    • Requires pituitary workup
26
Q

Name some causes of primary male hypogonadism

Name some causes of secondary male hypogonadism

A

Primary

  • Congenital defects
  • Genetic defects (e.g. Klinefelter’s)
  • Bilateral orchitis due to mumps
  • Bilateral testicular torsion or varicocele
  • Irradiation
  • Cytotoxic drugs

Secondary

  • Pituitary disorders (tumors, panhypopituitarism)
  • Hypothalamic disorders (Kallman’s syndrome)
27
Q

Describe the clinical workup for evaluation of hypogonadism

A
  • H&P shows symptoms and signs of hypogonadism
  • Measure morning total T (7am-9am, fasting)
    • If normal, follow-up later
    • If low, exclude reversible illness, drugs, nutritional deficiency
  • If first test was low and confounding factors ruled out, measure T, LH, and FSH (also SFA if fertility issue; free T if altered SHBG suspected)
    • if normal, follow-up later
    • If confirmed low T, determine primary or secondary from LH and FSH
  • If Low T, high FSH + LH: primary
    • Karyotype for Klinefelter’s
  • If low T, low or normal LH + FSH
    • Evaluate prolactin, iron, other pituitary hormones
    • MRI pituitary (if indicated by hormone studies)

M2 Endo/Repro (57 decks)

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