- •Series Editor Foreword
- •Preface
- •Contents
- •Contributors
- •Differential Diagnosis
- •Evaluation
- •Treatment
- •Discussion
- •References
- •Background
- •Normal Pubertal Stages
- •Differential Diagnosis of Precocious Puberty
- •Evaluation [1, 3, 4]
- •Treatment [1, 2]
- •Discussion
- •References
- •Background
- •Differential Diagnosis of Delayed Puberty
- •Evaluation
- •History and Physical Examination
- •Laboratory Investigation and Imaging
- •Treatment
- •Discussion
- •Suggested Readings
- •Discussion
- •Differential Diagnosis
- •References
- •Discussion
- •References
- •Differential Diagnosis
- •Evaluation
- •Treatment
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •Interpretation of Thyroid Function Tests (TFTs)
- •Iodine Supplementation for Pregnancy and Lactation
- •Screening for Maternal Hypothyroidism
- •Maternal Subclinical Hypothyroidism
- •Thyroid Autoimmunity
- •Maternal Hyperthyroidism: Diagnosis
- •Maternal Hyperthyroidism: Treatment
- •Postpartum Thyroiditis
- •Summary
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •Intrauterine Pathology
- •Thin Lining
- •Endometrial Receptivity Analysis (ERA)
- •Chronic Endometritis
- •Conclusion
- •References
- •Discussion
- •References
- •Discussion
- •History
- •Physical Exam
- •Semen Analysis
- •Laboratory Testing
- •Genetic Testing
- •Adjunctive Tests
- •Imaging
- •References
- •Discussion
- •Pathophysiology
- •Evaluation
- •Treatment
- •Lifestyle Changes
- •Medications
- •Phosphodiesterase 5 Inhibitors
- •Vacuum Erection Device
- •Intraurethral Alprostadil
- •Intracavernosal Injections
- •Surgery
- •References
- •Discussion
- •History
- •Semen Analysis
- •Physical Examination
- •Proper Varicocele Examination
- •Laboratory Investigations
- •Additional Investigations for the Pain Include
- •Other Investigations for Infertility in the Context of Varicoceles
- •Treatment
- •Indications for Varicocele Treatment Include the Following
- •Numerous Treatments for Varicocele Exist
- •References
- •Discussion
- •Semen Analysis
- •History and Physical Examination
- •Laboratory Investigations
- •Testicular Biopsy
- •Treatment
- •Surgical Techniques for Sperm Retrieval [13]
- •Fresh Vs. Frozen Sperm
- •Counseling
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Background
- •Epidemiology
- •Evaluation
- •Treatment
- •Non-ART Treatment
- •Accelerated Utilization of ART
- •ART Success Rates
- •Recent Trends in ART
- •Discussion
- •Conclusion
- •Suggested Readings
- •Evaluation
- •Differential Diagnosis
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •Suggested Readings
- •Diagnosis
- •Management
- •Discussion
- •References
- •Index
3 Delayed Puberty |
|
21 |
Table 3.1 Summary of differential diagnoses of delayed puberty |
||
|
|
|
|
Frequency |
|
Delayed puberty type |
(%) |
Differential diagnoses |
|
|
|
Constitutional delay |
30–35 |
Constitutional delay of growth and puberty |
Hypergonadotropic |
25 |
Turner’s syndrome; gonadal dysgenesis; |
hypogonadism |
|
chemoradiation |
|
|
|
Permanent |
20 |
GnRH de ciency; Kallmann syndrome; combined |
hypogonadotropic |
|
pituitary hormone de ciency; central nervous system |
hypogonadism |
|
(CNS) tumors; in ltrative diseases of CNS; CNS |
(congenital or acquired) |
|
chemoradiation |
Transient |
20 |
Eating disorders such as anorexia nervosa or bulimia; |
hypogonadotropic |
|
systemic diseases such as infammatory bowel disease, |
hypogonadism |
|
celiac disease, hypothyroidism; excessive exercise |
|
|
|
form of hypergonadotropic hypogonadism. Other causes include exposure to chemotherapy and/or pelvic radiation. Permanent hypogonadotropic hypogonadism is associated with persistently low FSH and LH levels owing to hypothalamic or pituitary disorders. Permanent hypogonadotropic hypogonadism can be divided into congenital or acquired causes. Idiopathic or isolated hypogonadotropic hypogonadism (IHH) is the most common congenital form of hypogonadotropic hypogonadism. Other congenital causes include genetic syndromes such as Kallmann syndrome, Prader-Willi syndrome, and Bardet-Biedl syndrome. Acquired hypogonadotropic hypogonadism can result from central nervous system (CNS) tumors, in ltrative disorders of the CNS such as histiocytosis, as well as CNS trauma, surgery or chemo-radiation. In contrast to permanent hypogonadotropic hypogonadism, transient hypogonadotropic hypogonadism, also called as functional hypogonadotropic hypogonadism, is due to delayed maturation of the HPO axis, secondary to an underlying medical condition. Common disorders associated with transient hypogonadotropic hypogonadism include stress, decreased caloric intake, hypothyroidism, infammatory bowel disease, celiac disease, and diabetes. Bone marrow-related illnesses such as leukemia, thalassemia, and sickle cell disease are known to cause hypogonadotropic hypogonadism. Malnutrition due to eating disorders, excessive exercise, or underlying medical conditions can inhibit the HPO axis transiently, thereby resulting in delayed puberty. Table 3.1 summarizes the various differential diagnoses of delayed puberty.
Evaluation
History and Physical Examination
When evaluating any young girl with delayed puberty, a clinician must remember that the normal pubertal transition can vary signi cantly even among healthy girls. Thus, delayed puberty may not necessarily signify a medical or
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22 |
N. Pereira |
developmental problem. Due to the vast differential diagnosis of delayed puberty, every effort should be made to elicit a detailed medical history, neonatal/pediatric history, as well as family history, including the age of puberty in parents, and/or any family members with a history of delayed puberty. Medical history should include questions about systemic diseases, including autoimmune diseases, as well as any CNS trauma, surgery or symptoms such as headaches, dizziness, or visual changes. Pertinent neonatal and pediatric exposures to chemoradiation should be noted. Patients and their parents should be asked about history of eating disorders, excessive exercise, and psycho-social functioning. Dysmorphic features or delayed cognitive development may indicate an underlying genetic syndrome.
Physical examination should include current and previous height, weight, body mass index (BMI), and linear growth velocity, which can be determined from growth charts. Clinicians should note any midline facial defects, neurologic de cits, including anosmia, and any signs of androgen excess. Features of Turner’s syndrome such as short height, broad chest, webbed neck, and low hairline should be documented, if present. Tanner staging should be performed. Most often, examination of external genitalia may suf ce; however, when needed, pelvic ultrasonography may be performed to evaluate internal pelvic structures.
Laboratory Investigation and Imaging
Every effort should be made to rule out other forms of delayed puberty before achieving the diagnosis of CDGP. A basic initial evaluation of delayed puberty includes measurements of FSH, LH, E2, and a single radiograph of the left hand and wrist to determine bone age. LH and E2 levels of >0.3 mIU/mL and 20 pg/mL, respectively, suggest onset of puberty. Young girls with CDGP can have a bone age that is delayed by about 2 years compared to chronological age. It may be challenging to distinguish between CDGP and IHH in routine testing as both are due to de ciency of FSH and LH secretion. In fact, there is considerable overlap of FSH and LH values in girls with CGDP and IHH. The GnRH stimulation test has limited value in such situations, given signi cant variability in response, and the lack of a commonly accepted cut-off value. However, a history of delayed puberty in a parent or sibling followed by spontaneous onset of puberty supports a diagnosis of CDGP. In contrast, IHH leads to permanent pubertal delay due to the absence of GnRH secretion. In such cases, a family history of pubertal development with exogenous sex steroids can support the diagnosis of IHH.
Advanced laboratory testing or imaging is dictated by the patient’s history, physical examination or FSH, LH, and E2 levels. For example, CNS symptoms or headaches may warrant magnetic resonance imaging (MRI) of the brain and/or pituitary. History of unintentional weight loss may require evaluation of thyroid function tests