Pubertal Disorders - Delayed Puberty

Question 1

What is Primary Amenorrhoea? (2)

Answer 1

Not starting menstruation :

1. By age of 13 - if no other evidence of pubertal development.
2. By age of 15 - if other signs of puberty e.g. breast-bud development.

Question 2

Aetiology of Primary Amenorrhoea.

Answer 2

1. Hypertrophic Hypogonadism.
2. Hypotrophic Hypogonadism.
3. Congenital Adrenal Hyperplasia.
4. Androgen Insensitivity Syndrome.
5. Structural Pathology.

Question 3

What is Hypogonadism?

Answer 3

A lack of the sex hormones - Oestrogen and Testosterone (they usually rise before and during puberty).

Question 4

What are the 2 types of Hypogonadism?

Answer 4

1. Hypogonadotrophic Hyogonadism.

2. Hypergonadotrophic Hypogonadism.

Question 5

What is Hypogonadotrophic Hypogonadism?

Answer 5

A deficiency of LH and FSH leads to a deficiency of the sex hormones - Oestrogen.

Question 6

Aetiology of Hypogonadotrophic Hypogonadism.

Answer 6

1. Hypopituitarism.
2. Damage to Hypothalamus/Pituitary.
3. Significant Chronic Conditions e.g. CF, IBD.
4. Excessive Exercise/Dieting.
5. Constitutional Delay in Growth and Development (no underlying physical pathology).
6. Endocrine Disorders e.g. GH Deficiency, Hypothyroidism, Cushing’s, Hyperprolactinaemia.
7. Kallman Syndrome.

Question 7

What is Kallman Syndrome?

Answer 7

A genetic condition causing delayed puberty secondary to hypogonadotrophic hypogonadism, inherited as an X-linked recessive trait.

Question 8

Aetiology of Kallman Syndrome.

Answer 8

Failure of GnRH-secreting neurones to migrate to the hypothalamus.

Question 9

Clinical Features of Kallman Syndrome (4).

Answer 9

1. Delayed Puberty.
2. Hypogonadism, Cryptorchidism.
3. Anosmia.
4. LH and FSH are inappropriately low/normal.

Question 10

What is Congenital Adrenal Hyperplasia?

Answer 10

A congenital (autosomal recessive) deficiency of 21-Hydroxylase (sometimes 11-B-Hydroxylase) enzyme, which causes underproduction of Cortisol and Aldosterone and overproduction of Androgens from birth.

Question 11

Clinical Features of Congenital Adrenal Hyperplasia (6).

Answer 11

1. Tall for Age.
2. Facial Hair.
3. Primary Amenorrhoea.
4. Deep Voice.
5. Precocious Puberty.
6. Severe Case : Hypoglycaemia and Electrolyte Disturbances - Salt-Wasting.

Question 12

Pathophysiology of Congenital Adrenal Hyperplasia.

Answer 12

1. Deficiency in enzyme that converts 17-a-Hydroxyprogesterone to 11-Deoxycortisol.
2. Reduced circulating levels of glucocorticoids.
3. High Levels of ACTH.
4. Excessive stimulation of Adrenal Gland.

Question 13

What is Hypergonadotrophic Hypogonadism?

Answer 13

A lack of response to stimulation from the gonadotropins leads to a deficiency of sex hormones - result of abnormal functioning of the gonads.

Question 14

Aetiology of Hypergonadotrophic Hypogonadism.

Answer 14

1. Previous Damage to Gonads.
2. Congenital Absence of Ovaries.
3. Turner’s Syndrome (XO).

Question 15

What is Klinefelter’s Syndrome?

Answer 15

Karyotype 47 XXY.

Question 16

Clinical Features of Kallman Syndrome.

Answer 16

1. Tall for Age.
2. Lack of Secondary Sexual Characteristics.
3. Small/Firm Testes.
4. Infertile.
5. Gynaecomastia (+ Increased Risk of Breast Cancer).
   They are males until puberty but have wider hips, weaker muscles.

Question 17

What is Turner’s Syndrome?

Answer 17

45XO or 45X (presence of only one sex chromosome or deletion of short arm of one of the X chromosomes).

Question 18

Clinical Features of Turner’s Syndrome.

Answer 18

1. Short Stature.
2. Shield Chest (Widely Spaced Nipples).
3. Webbed Neck.
4. Bicuspid Aortic Valve, Coarctation of Aorta.
5. Primary Amemorrhoea.
6. Lymphoedema in Neonate Feet.
7. Horseshoe Kidney.
8. Multiple Pigmented Naevi.
9. Short Fourth Metacarpal.
10. High-Arched Palate.
11. Cubitus Valgus.

Question 19

When should you investigate?

Answer 19

1. No evidence of pubertal changes in a girl aged 13 or in a boy aged 14.
2. No progression over 2+ years.

Question 20

Investigation of Delayed Puberty (5).

Answer 20

1. History & Examination.
2. Bloods.
3. Hormonal Blood Tests.
4. Genetic Testing.
5. Imaging.

Question 21

General Management of Delayed Puberty (3).

Answer 21

1. Constitutional Delay - Reassurance and Observation.
2. Underlying Condition Treatment.
3. Replacement Sex Hormones to Induce Puberty.

Question 22

Management of Specific Causes (3).

Answer 22

1. Hypogonadotrophic Hypogonadism - Pulsatile GnRH (induce ovulation, menstruation and fertility) or COCP if pregnancy is not wanted.
2. Ovarian Cause e.g. PCOS - COCP.
3. Stress / Exercise : Reduction in Stress, CBT, Healthy Weight Gain.