Disorders of Puberty

Puberty
 Physiological transition from childhood to reproductive maturity

Defn:
Appearance of both primary and secondary sexual characteristics in
children i.e. 8 in girls and 9 yrs. in boys

Growth Spurt: Is rapid change in height and weight during puberty

• Primary sex characteristics: are the reproductive organs

• Male primary sex characteristics are the penis, the scrotum and the ability to
ejaculate when matured.

• Female Primary sex characteristics are the vagina, uterus, fallopian tubes,
clitoris, cervix and the ability to give birth and munstruate when matured.

• Secondary sex characteristics are the characteristics that develop during

puberty or the external changes that make adloscent look like mature.
Tanner staging/SMR staging
• Tracks the development and sequence of secondary sex
characteristics of children during puberty.
• 5 stages from childhood to full maturity described by Dr. Tanner
(British citizen).
• Stage 1 is prepubertal, while stage 5 is full adult.
• In females; 5 stages for breast development and another 5 stages for
Pubic hair.
• In males; 5 stages for genital development and another 5 stages for
Pubic hair.
Precocious puberty
• Precocious Puberty
onset of puberty “breast enlargement” before age of 8 years in girls
and testicular enlargement before age of 9 years in boys.
• 5 times more common in girls than boys.
Types

Central Precocious puberty:

• There is early activation of HPaxis

Peripheral precocious puberty:

• There is no early activation of HPAxis but is related to increased estrogenic
state.
• Peripheral precocious puberty may be self resolving.
Causes
Central: idiopathic, cns tumors, encephalitis, trauma, cyst, vascular lesions

Peripheral:
• Germinoma teratoma ledyg cell adenoma
• hepatochoriocarcinona, adrenal malignancy
• Ovarian cysts ovarian tumour

Both
• CAH , macune Albright syndrome , familial male pp
 Investigation

• Lh
• Lh/fsh >1
• Thyroid Function Test
• USG, MRI
• bone assessment
 Treatment
• Gnrh,
• medroxyprogesterone,
• hypothyroidism,
• adrenal tumors surgery
• CAH
• Familial male pp ketoconazole
• Macune Albright Syndrome anastrazole and lentrazole tamoxifen
Delay Puberty
Pubertal Delay :

In girls:
Lack of breast development by age 13 years.
More than five years between breast growth and menstrual period.
Lack of pubic hair by age 14 years.
Failure to menstruate by age 16 years.

In Boys:
 Lack of testicular enlargement by age 14 years.
 Lack of pubic hair by age 15 years.
 More than five years to complete genital Enlargement.
 Types
Two major types:

 Hypogonadotropic hypogonadism/Gonadotropin deficiency

/Secondary hypogonadism

 Hypergonadotropic hypogonadism

 Constitutional delay
 Hypogonadotropic Hypogonadism:
Hypogonadism is a condition in which the male testes or the female ovaries produce little or
no sex hormones.

Hypogonadotropic hypogonadism (HH) is a form of hypogonadism that is due to a problem

with the pituitary gland or hypothalamus.

• Normally, the hypothalamus in the brain releases GnRH.

• This hormone stimulates the pituitary gland to release FSH and LH that causes ovaries or
the male testes to release hormones that lead to normal sexual development in puberty,
normal menstrual cycles,.

• Any change in this hormone release chain causes a lack of sex hormones. This prevents
normal sexual maturity in children and normal function of the testicles or ovaries in adults.
Causes of Hypogonadotropic Hypogonadism:
• Damage to the pituitary gland or hypothalamus from surgery, injury, tumor,
infection, or radiation
• Genetic defects
• High doses or long-term use of opioid or steroid (glucocorticoid) medicines
• High prolactin level (a different hormone released by the pituitary)
• Severe stress
• Nutritional problems (both rapid weight gain or weight loss)
• Long-term (chronic) medical diseases, including chronic inflammation or
infections
• Drug use, such as heroin or use or abuse of prescription opiate medicines
• Certain medical conditions, such as iron overload
Clinical Manifestation
Children:
• Lack of growth and sexual development at the standard age for
puberty (development may be very late or incomplete)

• In girls, a lack of breast development and menstrual periods

• In boys, no development of sex characteristics, such as
enlargement of the testes and penis, deepening of the voice, and
facial hair
• Inability to smell (in some cases)
• Short stature (in some cases)
 Possible Complications

• Health problems that may result from HH include:

• Delayed puberty
• Early menopause (in females) 
• Infertility
• Low bone density and fractures later in life
• Low self-esteem due to late start of puberty (emotional support
may be helpful)
• Sexual problems, such as low libido
 Hypergonadotropic hypogonadism Causes

Congenital:
• Disorders of Sex Development (DSD) –Turner’s syndrome, Klinefelter
syndrome, CAH

• Gonadotropin resistance (e.g., due to mutation of gonadotropin receptors

Acquired causes
• (due to damage to or dysfunction of the gonads include testicular
torsion, ovarian torsion, orchitis, drugs (antiandrogens, opioids, alcohol)
Constitutional delay of growth and
puberty (CDGP)
Temporary delay in the skeletal growth and thus height of a child
with no physical abnormalities causing the delay. Short stature may
be the result of a growth pattern inherited from a parent (familial) or
occur for no apparent reason (idiopathic).

Bone age is delayed & consistent with degree of pubertal maturation

(usually delayed by 2yrs or more.)

CDGP is the most common cause of short stature and delayed

puberty.
Treatment
HRT

testosterone in male 3 to 4 weekly for 3 to 12 months

Daily estrogen for 1 year in female

Klinefelter syndrome 
Klinefelter syndrome (KS), also known as 47,XXY, is an
aneuploid genetic condition where a male has an additional copy
of the X chromosome. 

The primary features are infertility and small, poorly functioning

testis, muscles weakness, tall stature, less body hair,
gynecomastia and low libido. Often, these symptoms are noticed
only at puberty.
Turner syndrome

• Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in

which a female is partially or completely missing an x chromosome.

• short and webbed neck, low set ears, low hairline short stature, downward
slanting of palpebral fissure, mal-occluded teeth, swollen hands and feet are
seen at birth.(lymphedema), widely spaced nipple.

• Amenorrhea , poorly developed breast, infertility. Heart defects, renal

abnormalities, diabetes, hypothyroidism can develop.

• Most people with Turner syndrome have normal intelligence;