1. DISORDERS OF SEX
HORMONES
By Drashti Patel
Assistant Professor
Department of Pharmacology
L J University

2. Introduction
 Secretion of hormones responsible for maintaining
sexual characters controlled by Brain.
 The sex hormones are a group of hormones
responsible for controlling puberty, reproduction,
birth and lactation.
 Sex hormone disorders/Reproductive hormone
disorders are medical conditions that affect the
different glands and organs of the body
responsible for the production of the sex
hormones.
 It is either an overproduction or underproduction
of the hormones responsible for unusual sexual

3.  In females – Estrogen produced by ovaries.
 In males – testosterone produced by testicles.
 Testosterone are also produced by females, but
if it is not in balance then women may
experience symptoms including menstrual cycle
irregularities, Hirsutism (extra hair growth), and
acne.
 When males do not produce enough
testosterone they may experience a decline in
libido (sex drive), erectile dysfunction, loss of
muscle and loss of body hair.

4. Classification of disorders
1. Disorders of sex organ development
 Hermaphrodism – reproductive organs of both sex
 Congenital adrenal hyperplasia
 Gonadal dysgenesis
 Androgen insensitivity syndromes
2. Hypogonadism (Gonadotropin deficiency)
A. Inherited
 Kallmann syndrome – delayed/absent puberty
 Klinefelter syndrome – XXY syndrome
 Turner syndrome – Female with only 1 ‘X’
chromosome
B. Aquired
 Ovarian failure (pre-mature menopause)
 Testicular failure

5. 3. Disorders of puberty
 Delayed puberty
 Precocious puberty
4. Menstrual function fertility disorders
 Amenorrhoea
 Polycystic ovary syndrome

6. Disorders of sex development
1. Most common - Congenital adrenal
hyperplasia (CAH)
 CAH – results in females having genitals which
look somewhat masculine
 Due to male hormones & Cortisol
2. Another common - Androgen insensitivity
syndromes
 Male does not respond to testosterone in usual
way

7. Hypogonadism
 The sex glands, also called gonads, are
primarily the testes in men and the ovaries in
women.
 Diminished functional activity of gonads leads
to hypogonadism  affects Spermatogenesis
in male and Ovulation in Females
 Low androgen levels = Hypoandrogenism
 Low Estrogen levels = Hypoestrogenism

8. Types
1. Primary :
 Testicles / Ovaries are affected
 LH/FSH like hormones are elevated
2. Secondary :
 Problem in brain signaling i.e. Hypothalamus/
Pituitary
 LH/ FSH like Hormones levels are normal or
low
 Based upon severity  may result in infertility

9. Primary Hypogonadism
 Mumps (Viral infection) are known to cause
testicular failure
 A Varicocele can reduce hormonal production
Enlargement of veins within the scrotum
 These defects are usually inherent within the
gonads
 A few syndromes related to this type are :
1. Klinefelter syndrome = 47 XXY genotype in
male

10. Secondary Hypogonadism
 It is also called as central Hypogonadism
 Examples of hypothalamic effects include :
1. Kallmann syndrome
2. Hypopituitarism
 Kallmann syndrome and PCOS are also
called hypogonadotropic hypogonadism
 Hemochromatosis & Diabetes mellitus can
cause secondary hypogonadism

11. Etiology
 Defective sexual development
 Premature menopause in adults

12. Complications
1. Pre-mature loss of ovarian functions (below age
of 40)  may result in Infertility
2. Low estrogen  ovarian dysfunction  can
cause hot flushes, night sweats, poor sleep and
vaginal dryness
3. Post menopausal period  Osteoporosis
4. PCOS can lead to Irregular periods , loss of
fertility, increased facial and abdominal hair,
Tendency of insulin resistance showing
symptoms of diabetes
5. Male  low testosterone Osteoporosis and

13. Disorders of Puberty
1. Delayed Puberty
2. Precocious Puberty
Delayed Puberty
There are 2 cases in delayed puberty :
 Puberty delays a several years but still occurs
normally later  Constitutional delay of growth
 Puberty delay may occur due to conditions like
malnutrition, hypogonadism or body’s own delayed
response to sex hormones  doesn’t occur in
normal way

14. Etiology of delayed puberty:
 Following are the possible causes of delayed
puberty.
 In females, prolonged high level of physical
exertion as in case of athletes.
 Systemic diseases like celiac disease,
inflammatory bowel disease, chronic renal
failure.
 Under nutrition e.x. anorexia nervosa, zinc
deficiency.
 Hypothalamic defects and diseases.

15.  Gonadal defects and diseases.
 Absence or unresponsiveness of target organs
 Endocrine disorders like hypothyroidism,
Cushing's syndrome.
 Cystic fibrosis.
 Different forms of congenital adrenal
hyperplasia.
 Brain tumours.

16. Signs and Symptoms of delayed
puberty :
There are three types of effects due to pubertal delay.
1. Lateness: There may be delay of two to three years or
more. In girls, there is no breast development by 13 years.
In boys, there is no testicular enlargement by 14 years or
delay in development of genetalia by another 5 years.
2. Discordance: In these cases, some aspects of physical
development related to puberty are delayed and others are
not eg. in most girls, the beginning stages of breast
development precede pubic hair. In case of boys, pubic
hair may grow but testes continue to be pre-pubertal in
size.
3. Specific disorders: Malnutrition or anorexia nervosa
delay puberty. Poor growth may suggest possibility of
celiac disease, hypopituarism or Turner syndrome.
Reduced sense of smell (hyposmia) or no sense of smell
(anosmia) suggests Kallmamm syndrome.

17. 2. Precocious Puberty
 In precocious puberty, it occurs at an unusually
early age. The causes may be central or
Peripheral.
 Central causes can be traced to hypothalamus
or pituitary.
 In case of peripheral causes, they may be
endogenous or exogenous.
 The causes are of two types :
1. Central
2. Peripheral

18. 1. Central:
The central causes are as follows:
 Damage to inhibitory system of brain due to
infection, trauma or irradiation
 Langerhans cell histocytosis.

19. 2. Peripheral: Secondary sexual development induced by
sex steroid is one of the causes
 Symptoms include hypertension, hypotension,
electrolyte abnormalities, ambiguous genetalia in
females. Blood tests indicate high level of androgens
with low level of cortisone.
 The causes are of 2 types : endogenous and
exogenous
 Endogenous:
 Gonadal tumours
 Adrenal tumours
 Congenital adrenal hyperplasia
 Exogenous:

20. Signs and Symptoms of precocious
puberty
 It includes development of the following before age 8 in
girls and before age 9 in boys
 Signs and symptoms in girls
 Breast growth
 First period (menarche)
 Signs and symptoms in boys:
 Enlarged testicles and penis
 Facial hair
 Deepening voice
 Signs and symptoms
in both boys and girls.
Pubic or underarm hair
Rapid growth
Acne
Adult body odour

21. Complication of precocious
puberty
 Children with precocious puberty may grow
quickly at first and be tall But since their bones
mature more quickly than normal, they often
stop growing earlier than usual. This can
cause them to be shorter than average
adults.
 Social and emotional problems: Girls and
boys who begin puberty long before their
peers may be extremely self conscious about
the changes occurring in their bodies.

22. Menstrual Function or Fertility
Disorders:
 There are two forms of fertility disorders
related to menstrual function
1. amenorrhea and
2. polycystic ovary disease

23.  Amenorrhea: Absence of a menstrual period in
women of reproductive age.
 It is of two types: primary and secondary.
 In case of primary amenorrhea, there may be
developmental problems like absence of
uterus, failure of ovary to receive or maintain
egg cells.
 In case of secondary amenorrhea, the cause
may be hormonal disturbances from
hypothalamus and pituitary

24. Causes of amenorrhea:
 Low Body Weight: Easy mobilization of energy is
necessary to maintain regular menstrual cycles Thus
the cause of amenorrhea is low energy availability.
 Drug Induced Amenorrhea: Oral contraceptives -
Only progestogen or high dose oral contraceptives
cause amenorrhea. Opiate like heroin,
Antipsychotic drugs.
 Breast Feeding
 Physical: Amenorrhes can be caused by physical
deformities. One example is MRKH syndrome in
which Mullerian ducts do not develop, which prevent
menstruation.

25. Complications
 Infertility
 Osteoporosis: It amenorrhoea is caused by
low levels of estrogen then there is a risk of
osteoporosis because estrogen is involved in
transfer of calcium to the bone.

26. Polycystic ovary syndrome (PCOS)
 Polycystic ovaries develop when the ovaries are
stimulated to produce excessive amounts of
androgenic hormones like testosterone due to one
of the following problems :
1. Release of excessive LH by anterior pituitary gland.
2. High levels of insulin in blood of women whose
ovaries are sensitive to the stimulus.
3. The cysts are actually immature follicles. The follicles
have developed from primordial follicles, but their
development is stopped due to disturbed ovarian
function. Women with PCOS experience increased
frequency of hypothalamic GnRH pulses, which in
turn results in increased LH/FSH ratio. A majority of

27. 4. Adipose tissue possesses aromatase.
 testosterone Aromatase estradiol
 Excess of adipose tissue in obese women
create excess androgens as well as
estrogens.

28. Signs and Symptoms of PCOS :
 Menstrual Disorders: PCOS produces
oligomenorrhea or amenorrhea. Other types of
menstrual disorders may occur.
 Infertility: It results directly from anovulation. High
Levels of Masculinising Hormones: It is known as
hyperandrogenism. Its most common signs are
acne and hirsutism. It may produce hypermenorrhea
and androgenic alopecia
 Metabolic Syndrome: There is a tendency towards
central obesity and symptoms associated with
insulin resistance. Serum insulin, insulin resistance
and homocysteine levels are high in women with
PCOS

29. Complications of PCOS
 Infertility: Every woman with PCOS may not
be infertile. Those women who have
anovulation may turn out to be infertile.
 Hirsutism and Acne: A Standard
contraceptive pill is frequently effective in
reducing hirsutism. Androgenic drug like
Norgestrel and Livonorgestrel should be
avoided due to their androgenic effects.
 Menstrual Irregularity: If fertility is not the
primary aim, then menstruation can be
regulated with a contraceptive pill.

30. Thank You

31. References
1. Principles of pharmacology by HL Sharma
and KK Sharma- 3rd Edition, Paras Medical
Publisher, 2019
2. Essentials of Medical pharmacology by KD
Tripathi – 6th Edition, JAYPEE, 2008
3. Pharmacology by Rang and Dale- 8th Edition,
Edinburgh: Churchill Livingstone, 2014