2. INTRODUCTION
• Puberty: Puberty is the period during which adolescents undergo
physical and hormonal changes, leading to sexual maturation and
reproductive capability.
• Understanding Puberty and Associated Defects in Females:
Understanding the normal process of puberty and recognizing
deviations from the norm is crucial for timely diagnosis and
management of puberty disorders in females.
3. Puberty in Females
Normal Developmental Milestones:
• Onset of Breast Development (Thelarche): Typically occurs between
ages 8-13, with breast bud development and nipple enlargement.
• Growth of Pubic Hair (Pubarche): Usually begins around the same time
as breast development, characterized by the appearance of pubic hair.
• Growth Spurt: Rapid increase in height and weight, usually occurring
between ages 10-14.
• Menarche (First Menstrual Period): Marks the onset of menstruation
and ovulatory cycles, typically occurring around age 12-13.
4.
5. Hormonal Changes:
• Role of Gonadotropin-Releasing Hormone (GnRH), Follicle-Stimulating Hormone
(FSH), and Luteinizing Hormone (LH): GnRH from the hypothalamus stimulates the
release of FSH and LH from the pituitary gland, which in turn regulate ovarian function
and estrogen production.
• Estrogen and Progesterone Levels: Estrogen, produced by the ovaries, promotes
the development of secondary sexual characteristics and regulates the menstrual
cycle. Progesterone prepares the uterus for pregnancy.
Physical Changes:
• Breast Development (Tanner Stages): Tanner staging system categorizes breast
development into five stages, ranging from prepubertal to mature breast development.
• Genital Changes (Tanner Stages): Tanner staging system also describes changes in
pubic hair growth and genital development, including the appearance of the labia and
clitoris.
• Menstrual Cycle: Consists of menstrual, follicular, ovulatory, and luteal phases,
regulated by hormonal fluctuations.
6.
7. Diagnostic Approach to Puberty
Disorders:
History Taking:
• Age of Onset of Puberty: What age did you notice the first signs of puberty,
such as breast development or pubic hair growth?
• Pattern of Developmental Changes: Can you describe the sequence and
progression of pubertal milestones, including any recent changes?
• Menstrual History: When did you have your first menstrual period, and have
your periods been regular or irregular?
• Family History of Puberty Disorders: Are there any family members with a
history of early or delayed puberty, hormonal imbalances, or reproductive
health issues?
8. Physical Examination:
• Tanner Staging: Could you please remove your clothing from the waist up, and I'll
perform a physical examination to assess breast development and pubic hair
distribution?
• Evaluation of Growth Parameters: Let's measure your height and weight to
assess growth velocity and potential growth disturbances.
• Inspection of External Genitalia: I'll need to examine your external genitalia to
assess for any anomalies or abnormalities in structure and development.
Laboratory Investigations:
• Hormonal Assays: Measure serum levels of FSH, LH, estradiol, and other
hormones to assess ovarian function and hormonal balance.
• Imaging Studies: Depending on the findings of physical examinations and
laboratory tests, pelvic ultrasound or MRI may be recommended to evaluate the
anatomy of the reproductive organs and detect structural abnormalities.
9. Differential Diagnosis
• Precocious Puberty:
Early onset of puberty before the age of 8 in girls, often due to
central (gonadotropin-dependent) or peripheral (gonadotropin-
independent) causes.
Have you noticed any signs of early puberty, such as breast
development or pubic hair growth, before the age of 8?
10. • Delayed Puberty:
Absence of pubertal development by age 13 in girls with no underlying
medical conditions or by age 15 in girls with chronic illnesses or
constitutional delay.
Have you experienced any delay in the onset of puberty, with no signs of
breast development or pubic hair growth by the age of 13?
• Menstrual Irregularities:
Abnormalities in menstrual frequency, duration, or volume, which may
indicate hormonal imbalances, structural abnormalities, or other underlying
conditions.
Do you have any concerns about your menstrual periods, such as
irregularity, heavy bleeding, or severe pain?
11. Common Puberty Disorders in
Females:
Precocious Puberty:
• Definition and Causes: Precocious puberty is defined as the onset of puberty before
the age of 8 in girls and is caused by early activation of the hypothalamic-pituitary-
gonadal axis.
• Clinical Features: Early development of secondary sexual characteristics, accelerated
growth velocity, advanced bone age, and potential psychological implications.
• Diagnostic Evaluation: Comprehensive history and physical examination, hormonal
assays, and imaging studies to identify the underlying cause.
• Management Approaches: Treatment aims to suppress gonadotropin secretion and
halt premature sexual maturation, depending on the underlying etiology.
12. Delayed Puberty:
• Definition and Causes: Delayed puberty refers to the absence of pubertal
development by the age of 13 in girls with no underlying medical conditions or
by the age of 15 in girls with chronic illnesses or constitutional delay.
• Clinical Features: Lack of secondary sexual characteristics, delayed growth
spurt, delayed bone age, and potential psychosocial concerns.
• Diagnostic Evaluation: Thorough assessment to rule out underlying medical
conditions, including hormonal assays, imaging studies, and genetic testing if
indicated.
• Management Approaches: Treatment may involve addressing underlying
medical conditions, hormone replacement therapy, and psychological support.
13. Menstrual Irregularities:
• Amenorrhea: Absence of menstrual periods, which can be primary (absence of
menarche by age 16) or secondary (cessation of previously regular
menstruation).
• Dysmenorrhea: Painful menstruation associated with pelvic cramping and
discomfort, which may be primary or secondary to underlying pathology.
• Menorrhagia: Excessive menstrual bleeding characterized by prolonged or
heavy periods, often indicative of hormonal imbalances, uterine abnormalities,
or bleeding disorders.
• Oligomenorrhea: Infrequent menstrual periods with intervals exceeding 35
days, which may result from hormonal disturbances, polycystic ovary syndrome
(PCOS), or other underlying conditions.
14. Case Studies
• Case 1:
Precocious Puberty: A 7-year-old girl presents with early breast
development and pubic hair growth. Diagnostic workup reveals
elevated serum estradiol levels and advanced bone age, consistent
with central precocious puberty.
15. • Case 2:
Delayed Puberty:
A 14-year-old girl with no signs of breast development or pubic hair growth
seeks evaluation for delayed puberty. Further investigation reveals normal
hormonal levels and a delayed bone age, suggestive of constitutional delay.
• Case 3:
Menstrual Irregularities:
A 16-year-old girl presents with irregular menstrual periods and severe
dysmenorrhea. Evaluation reveals polycystic ovary syndrome (PCOS) based
on hormonal imbalances and ovarian ultrasound findings.
