Diagnosis of Menarche

Menarche Diagnosis: Book Excerpts

• Ask the Following Questions - PRECOCIOUS PUBERTY
• Differential Diagnosis - Precocious Puberty
• Diagnosis - Precocious puberty
• Diagnosis - Precocious puberty in males
• Clinical Features and Diagnosis - Precocious Puberty

Diagnostic Tests for Menarche: Online Medical Books

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PRECOCIOUS PUBERTY: Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)

1. Is there a history of anabolic steroid ingestion? Children may take birth control pills early in life, and young boys may want to take anabolic steroids to increase their muscular mass.
2. Is there headache, papilledema, or other neurologic signs? These findings would suggest a brain tumor, and a pinealoma is one that should be excluded.
3. Is there unilateral hyperpigmentation? This finding suggests McCune-Albright syndrome.
4. Is there a testicular mass? The presence of a testicular mass would suggest Leydig cell tumor or hyperplasia.
5. Is there an adnexal mass? The presence of an adnexal mass would suggest a granulosa cell tumor or arrhenoblastoma.
6. Is there an adrenal mass? The presence of an adrenal mass would suggest adrenocortical hyperplasia or tumor.
7. Is there masculinization? This finding would suggest an arrhenoblastoma.
8. Is there no mass detected on physical examination? The absence of any mass would suggest constitutional precocious puberty.

DIAGNOSTIC WORKUP

Routine diagnostic studies include a CBC, sedimentation rate, urinalysis, chemistry panel, VDRL test, rapid ACTH test, serum testosterone, dihydrotestosterone, dehydroepiandrosterone, and a flat plate of the abdomen. If a brain tumor is suspected, a CT scan of the brain may be done. If an adrenal tumor is suspected, a CT scan of the abdomen and pelvis may be performed. Pelvic ultrasound or a CT scan of the pelvis may identify an ovarian tumor. Ultrasound may help evaluate a testicular mass. It is best to consult an endocrinologist, urologist, or gynecologist before ordering these expensive diagnostic tests.

 

» READ BOOK EXCERPT ONLINE »

Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

Precocious Puberty: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

• True central precious puberty (TCPP)
  –Normal puberty as a result of activation of hypothalamus with anterior pituitary release of LH and FSH
  –No identifiable cause in 95% (idiopathic)
  –Most cases sporadic, not familial
  –Any type of neurologic disturbance can be the cause: Tumor, cerebral palsy, head trauma, hydrocephalus, cranial irradiation
  –Rare in boys; must search for underlying cause as less likely to be idiopathic
  –Onset can be triggered or primed by exposure to androgens

• Precocious pseudopuberty
  –Maturation due to peripheral gland activity; hypothalamic-pituitary unit not activated for puberty
  –Enzyme defects (congenital adrenal hyperplasia)
  –Tumors
  –McCune-Albright syndrome
  –Ovarian cysts
  –Anabolic steroid exposure
  –May advance the bone age

• Premature adrenarche
  –Development of pubic hair without other signs of puberty
  –May be accompanied by the development of body odor, greasy skin and hair
  –May have advanced bone age
  –More common in girls
  –Androgen-secreting tumor
  –Simple virilizing and nonclassical congenital adrenal hyperplasia (most commonly 21hydroxylase deficiency; also 3-β-hydroxysteroid dehydrogenase deficiency)

• Benign premature thelarche
  –Development of breast tissue without pubic hair
  –Common between ages of 6–24 months
  –May be present since birth
  –Normal height velocity
  –Appropriate skeletal maturation (bone age)
  –Normal hormone studies and pelvic ultrasound

Workup and Diagnosis

• History
  –Puberty age of onset, progression
  –Height velocity
  –Greasy hair and skin, acne, body odor, mood swings
  –Pubic hair, axillary hair, breast development
  –Cyclic vaginal bleeding, muscle bulk
  –Headache, vomiting, visual changes (intracranial mass)
  –Perinatal problems leading to intraventricular hemorrhage and hydrocephalus
  –Cerebral palsy, head trauma, prior cranial irradiation
  –Steroid creams, estrogens, anabolic steroids
  –Family history of early puberty
• Physical exam
  –Weight, height, BP, funduscopic examination, thyroid, Tanner staging, dermatologic exam for café-au-lait (McCune-Albright syndrome or neurofibromatosis)
  • Labs/studies
    –LH, FSH, estradiol, testosterone
    –17-hydroxyprogesterone, 17-hydroxypregnenolone
    –Androstenedione, DHEA
    –Thyroid function tests
    –hCG in boys (screen for tumors)
    –Provocative testing with GnRH (hypothalamicpituitary axis) to assess central activation
    –Bone age: Degree of skeletal maturation
    –Abdominal and pelvic ultrasound: Adrenal or ovarian/testicular masses
    –MRI of head/pituitary to assess for intracranial mass

» READ BOOK EXCERPT ONLINE »

Source: In A Page: Pediatric Signs and Symptoms, 2007

Precocious puberty: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

Diagnosis requires a complete patient history, a thorough physical examination, and special tests to differentiate between true and pseudoprecocious puberty and to indicate what treatment may be necessary. X-rays of the hands, wrists, knees, and hips determine bone age and possible premature epiphyseal closure. Other tests detect abnormally high hormonal levels for the patient’s age: vaginal smear for estrogen secretion, urinary tests for gonadotropic activity and excretion of 17-ketosteroids, and radioimmunoassay for both luteinizing and follicle-stimulating hormones.

As indicated, ultrasound, laparoscopy, or exploratory laparotomy may verify a suspected abdominal lesion; EEG, ventriculography, pneumoencephalography, computed axial tomography scan, or angiography can detect CNS disorders.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Precocious puberty in males: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

Assessing the cause of precocious puberty requires a complete physical examination. A detailed patient history can help evaluate the patient’s recent growth pattern, behavior changes, a family history of precocious puberty, or ingestion of hormones.

In true precocity, laboratory results include the following:

❑ Serum levels of luteinizing and follicle-stimulating hormones and corticotropin are elevated.

❑ Plasma tests for testosterone demonstrate elevated levels (equal to those of an adult male).

❑ Evaluation of ejaculate reveals the presence of live spermatozoa.

❑ Brain scan, skull X-rays, and EEG can detect possible central nervous system tumors. Abdominal scans can detect testicular tumors.

A child with an initial diagnosis of idiopathic precocious puberty should be reassessed regularly for possible tumors.

In pseudoprecocity, chromosomal karyotype analysis demonstrates an abnormal pattern of autosomes and sex chromosomes. Elevated levels of 24-hour urinary 17-ketosteroids and other steroids also indicate pseudoprecocity.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Precocious Puberty: Clinical Features and Diagnosis
(The Diagnostic Approach to Symptoms and Signs in Pediatrics)

GnRH-Dependent Precocious Puberty

GnRH-dependentprecocious puberty, like normal puberty, depends on activation of hypothalamic-pituitary-gonadalaxis by GnRH. Sexual development can appear at any age and usuallyfollows sequence of normal puberty.

First sign of puberty in girls is breastdevelopment followed by appearance of pubic hair. Maturation ofgenitals, axillary hair, acceleration of linear growth, and onsetof menses follow.

In boys first sign of puberty is testicularenlargement, which is followed by enlargement of penis, appearanceof pubic hair, deepening voice, and acceleration of linear growth.

In both girls and boys, bone age isadvanced.

Idiopathic

Although idiopathic precocious puberty accountsfor >90% of cases of precocious puberty, boys aremuch more likely than girls to have an underlying disorder (e.g.,brain tumor).

CNS Disorders

Variouslesions of CNS may cause precocious puberty. They include hypothalamic hamartoma(most common), tumors (astrocytoma, ependymoma, optic tract glioma),infections (meningitis, encephalitis, brain abscess), head trauma,hydrocephalus, and cranial irradiation.

CT or MRI should be performed.

Other investigations depend on suspecteddiagnosis.

Prolonged Severe Hypothyroidism

Girls withsevere untreated hypothyroidism may experience breast developmentand menstrual bleeding, whereas boys may have enlarged testes withor without enlarged penis but no pubic hair. Likely explanationis that large amounts of TSH interact with FSH receptor to produceFSH-like effects but no LH effects.

Usual cause is undiagnosed lymphocyticthyroiditis.

Clinical manifestations become normalwith proper treatment of hypothyroidism.

GnRH-Independent Precocious Puberty in Girls

Isosexual (Feminizing) Disorders

Exogenous Estrogens

Estrogen-containing creams may cause transientbreast development.

Adrenal Tumors

Most estrogen-secretingadrenal tumors are adenomas. Serum estradiol is increased, whereasserum FSH and LH are low.

Abdominal U/S or CT usuallylocates tumor. Histologic diagnosis is definitive.

Autonomous Ovarian Cysts

Estrogen-producing ovarian cysts can leadto isosexual precocity, and abdominal U/S can demonstratethem.

Ovarian Tumors

Most commonestrogen-producing ovarian tumor is granulosa cell tumor, whichis usually benign. Abdominal mass may be palpable in lower abdomen,and U/S demonstrates it. Serum estradiol is high, and serumFSH and LH are low.

Chorioepithelioma is rare malignanttumor that produces large amounts of human chorionic gonadotropin(hCG), which stimulates contralateral ovary to secrete estrogen.Histologic diagnosis is definitive.

McCune-Albright Syndrome

Somaticmutations in guanine nucleotide-binding protein, alpha-stimulatingactivity polypeptide 1 gene are responsible for this disorder. Genelocus has been mapped to chromosome 20q13.2.

Classical form, which is more commonin girls, consists of café au lait spots, fibrous dysplasiaof bone, and precocious puberty. Nonclassical form has only 2 ofthese findings. Hyperthyroidism, hypercortisolism, and growth hormonehypersecretion also may occur.

Contrasexual (Masculinizing) Disorders

Exogenous Androgens

Androgen-containing drugs (anabolic steroids)may cause appearance of axillary and pubic hair, acne, and deepervoice.

Congenital Adrenal Hyperplasia

21-Hydroxylase Deficiency

Most commoncause of congenital adrenal hyperplasia is 21-hydroxylase deficiency, whichaccounts for about 95% of cases. Gene locus has been mappedto chromosome 6p21.3.

This enzyme catalyzes conversion ofprogesterone to deoxycorticosterone and 17-OH progesterone to 11-deoxycortisol.Its deficiency leads to decreased serum cortisol, increased adrenocorticotropichormone (ACTH) production, and increased androgen production withresulting virilization. In both simple virilizing and salt-losingforms, increased fetal androgen causes spectrum of external genitalia changesthat range from mild clitoral enlargement to male-type phallus withlabial fusion. Decreased aldosterone secretion results in hyponatremia,hyperkalemia, and metabolic acidosis. Girls with nonclassical 21-hydroxylasedeficiency have normal genitalia at birth but may develop pubicand axillary hair before normal puberty.

Diagnosis may be confirmed by highserum 17-OH progesterone concentration at baseline and after ACTHstimulation test.

11-Beta-Hydroxylase Deficiency

Deficiencyof this enzyme impairs conversion of deoxycorticosterone to corticosteroneand 11-deoxycortisol to cortisol. Gene locus has been mapped tochromosome 8q21.

Excess fetal androgen results in virilizationin girls and ambiguous genitalia. Increase in deoxycorticosteronecauses hypertension. Nonclassical form presents with developmentof axillary and pubic hair before normal puberty.

Diagnosis is confirmed by high serumconcentrations of deoxycorticosterone and 11-deoxycortisol and lowserum concentrations of corticosterone and cortisol.

3-Beta-Hydroxysterold Dehydrogenase Deficiency

This enzymecatalyzes conversion of pregnenolone to progesterone, 17-OH pregnenoloneto 17-OH progesterone, and dehydroepiandrosterone (DHEA) to androstenedione.Gene locus has been mapped to chromosome 1p13.1.

Mild virilization occurs because onlyweak androgen DHEA is produced in excess. Aldosterone deficiencyleads to salt wasting. Nonclassical form presents with prematuredevelopment of axillary and pubic hair.

Pattern of steroid secretion confirmsdiagnosis: high serum levels of pregnenolone, 17-hydroxypregnenolone,and dehydroandrostenedione, and low serum levels of progesterone,17-OH progesterone, and androstenedione.

Adrenal Tumors

Androgen-secretingadrenal tumors (adenoma, carcinoma) cause masculinization in previouslynormal girls.

Changes consist of clitoral enlargement,acne, deeper voice, axillary and pubic hair development, and lineargrowth acceleration. Many children also have Cushing syndrome.

Abdominal U/S and CT usuallylocate tumor. Histologic diagnosis is definitive.

Ovarian Tumors

Some ovariantumors (arrhenoblastoma most commonly) may secrete androgens and causemasculinization.

Serum testosterone is high and gonadotropinsare low. Abdominal or pelvic mass may be palpable.

Abdominal U/S, CT, and MRIusually locate tumor. Histologic diagnosis is definitive.

GnRH-Independent Precocious Puberty in Boys

Isosexual (Masculinizing) Disorders

In addition to conditions discussed below,McCune-Albright syndrome causes GnRH-independent precocious pubertyin boys.

Exogenous Androgens

Androgen-containing drugs may cause appearanceof axillary and pubic hair, acne, and deeper voice.

Congenital Adrenal Hyperplasia

Boys withnon–salt-losing 21-hydroxylase deficiency usually appearnormal at birth. During infancy or early childhood, signs of prematuresexual development occur: penile enlargement, pubic hair, acne,deeper voice, and acceleration of linear growth, but testes aresmall.

Some types (21-hydroxylase deficiency,11-beta-hydroxylase deficiency) have nonclassical forms, which maypresent with premature development of pubic and axillary hair. Seeprevious discussion of congenital adrenal hyperplasia in this chapter.

Adrenal Tumors

In boyswith adrenocortical tumors (adenoma, carcinoma), clinical pictureis one of virilization: penile enlargement, pubic and axillary hair,deeper voice, acne, and linear growth acceleration.

Abdominal U/S, CT, and MRIcan usually locate the tumor.

Leydig Cell Tumor

These testiculartumors are usually unilateral and benign.

Because they often occur between 5and 9 yrs and produce large amounts of testosterone, signs of earlypuberty are observed.

Tumor is usually palpable; however,testicular U/S can usually locate smaller nonpalpable tumors.

Human Chorionic Gonadotropin–Secreting Tumors

Hepatoblastomamay be associated with isosexual precocity in boys. Tumor produces hCG,which stimulates LH receptors in Leydig cells of testes to produceexcess testosterone. Enlarged liver or mass in right upper quadrantof abdomen should suggest diagnosis. Serum hCG and alpha-fetoprotein serveas useful markers.

Other hCG-secreting tumors (choriocarcinoma,teratocarcinoma, teratoma) may be located in brain, mediastinum,adrenal glands, or gonads. Precocious puberty with these tumorsis much more common in boys than in girls. Diagnostic tests includemeasurement of hCG and alpha-fetoprotein, chest radiography, abdominalU/S, and CT of chest, abdomen, or head.

Familial Male Precocious Puberty (Familial Testotoxicosis)

Autosomal-dominantdisorder limited to boys that is due to constitutively activating mutationsof LH receptor gene, whose locus has been mapped to chromosome 2p21.

Usually presents at 2–3 yrsof age with signs of rapid virilization.

Serum testosterone is increased, whereasserum LH is prepubertal and fails to increase with GnRH stimulation.Molecular genetic analysis is definitive.

Contrasexual (Feminizing) Disorders

Exogenous Estrogens

Estrogen in the form of creams or accidentalingestion of medicines containing estrogens may produce gynecomastiain boys.

Adrenal Tumors

Adrenocorticaltumors (adenomas, carcinomas) are rare.

Usual finding is gynecomastia. Sometimesvirilization with enlarged phallus, acne, and deepening voice, aswell as accelerated linear growth, are found. Testes are not enlarged.Serum level of estrogens and often androgens is increased.

CT usually locates tumors.

Normal Variations

Premature Thelarche

Is isolatedbreast development without other signs of precocious puberty. Commonly appearsin first 2 yrs of life and may affect 1 or both breasts.

Linear growth proceeds at normal rate,and normal pubertal changes occur at appropriate time. Bone ageis normal. Usual course is regression or lack of progression.

Child should be seen 4–6 mosafter initial visit to ensure that growth velocity is normal.

Premature Adrenarche

Is prematureappearance of sexual hair. Reflects early production of adrenalandrogens, namely DHEA and DHEA sulfate.

Not associated with significant increasein linear growth rate, and puberty occurs at normal time.

Growth velocity should be reassessedin 4–6 mos.

Premature Menarche

This raredisorder is premature onset of isolated vaginal bleeding withoutother signs of secondary sexual characteristics or any other knowncause of vaginal bleeding. Most girls with this disorder have 1–3episodes.

Puberty occurs at normal time, andmenstrual cycles are normal. Serum gonadotropin levels are normal,but estradiol levels may be increased due to activity of ovarianfollicular cysts.

Diagnostic Approach

Normal Variations vs Precocious Puberty

Importantto distinguish normal variations (premature thelarche, premature adrenarche,premature menarche) from precocious puberty.

Premature thelarche and adrenarcheare much more common than precocious puberty, and if one or theother is suspected and bone age is normal, no further investigationneeds to be made. Growth velocity should be reassessed in 4–6mos. Only if other signs of puberty develop or if bone age becomes advancedis further investigation needed.

Evaluation of Precocious Puberty in Boys

In boys,testicular exam is especially important to help distinguish betweenvarious causes of precocious puberty. Bilateral enlarged testesindicate GnRH-dependent precocious puberty, whereas bilateral smalltestes indicate GnRH-independent precocious puberty.

To confirm presence of GnRH-dependentor -independent puberty, GnRH stimulation test may be performed.Intravenous infusion of GnRH (100 μg) is given, and serum LHand FSH concentrations are measured at 30 and 60 mins. PredominantLH response signifies pubertal response and indicates presence ofGnRH-dependent puberty. MRI should be performed to search for CNSlesion, particularly a tumor.

With GnRH-independent precocious puberty,history and physical exam can determine whether there has been exposureto exogenous sex steroids. Serum 17-OH progesterone levels at baseline andafter ACTH stimulation can diagnose 21-hydroxylase deficiency. Measurementof serum androgens (testosterone, dehydroepiandrosterone sulfate)and adrenal imaging can establish diagnosis of adrenal tumor. TesticularU/S should be performed with suspected testicular tumor.Elevated serum hCG indicates hCG-secreting tumor, and further imagingis required to locate and define tumor.

Evaluation of Precocious Puberty in Girls

GnRH stimulationtest is performed in girls with isosexual precocious puberty toestablish whether precocious puberty is caused by activation ofthe hypothalamic-pituitary axis. Individuals with positive responsesto GnRH undergo MRI to determine whether there is a lesion in CNS,even though idiopathic precocious puberty is much more common. Whenresponse to GnRH is absent or blunted, sex steroid secretion isindependent of hypothalamic-pituitary axis, and ovarian abnormality(cyst or tumor) or McCune-Albright syndrome is likely. Pelvic U/Sis performed to assess ovarian structure.

In girls with contrasexual precociouspuberty (pubic or axillary hair but no breast development), evaluationmust focus on ovary or adrenal as abnormal source of androgens.Again, pelvic U/S is especially helpful along with measurementof adrenal androgens and androgen precursors. In some cases, ACTHstimulation test is needed to diagnose nonclassical 21-hydroxylasedeficiency.

» READ BOOK EXCERPT ONLINE »

Source: The Diagnostic Approach to Symptoms and Signs in Pediatrics, 2006

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