Disease Information for Familial testotoxicosis/Premature puberty [2p21]

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Clinical Manifestations
Signs & Symptoms
Accelerated growth Child
Erection without sexual/stimulation
Small testes
Small/soft testes
Weight gain in Children
Violent behavior/Aggressive
Tall child
Deepening of voice/Low voice
Voice Alteration in Children
Voice change/disturbance/Unusual
Short stature
Weight gain
Clinical Presentation & Variations
Presentation/Boy early Fast Precocious Puberty
Presentation/Male genitalia Macrogenitosomia Child
Presentation/Precocious Male Puberty Small Testes
Disease Progression
Course/Progressive
Demographics & Risk Factors
Established Disease Population
Patient/Rapidly growing
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Boy patient
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Male
Population/Male-only/limit
Population/Preschool child
Population/Preschool child/boy
Laboratory Tests
Abnormal Lab Findings - Decreased
LH/Leutinizing Hormone (Lab)
Abnormal Lab Findings - Increased
Testosterone Total (Lab)
Diagnostic Test Results
X-RAY
Xray/Advanced bone age/child/adolescent
Associated Diseases & Rule outs
Associated Disease & Complications
Acne vulgaris (acne)
Anorchia/Hypoplasia testes
Epiphysis long bones/premature closure
Familial Testotoxicosis/Premature puberty [2p21]
Obesity
Obesity in Children
Precocious puberty/male
Precocious puberty/sexuality female
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Endocrine gland (category)
CLASS/Testicle disorder (ex)
Pathophysiology
Pathophysiology/Leydig cell hypertrophy child
Pathophysiology/Novel plasma stimulator Testosterone release
Pathophysiology/Gene locus 2p21
Pathophysiology/Lutrophin/Gonadotropin receptor mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Endocrine/humoral disorders (category)
PROCESS/Sex-limited autosomal dominant
Treatment
Drug Therapy - Indication
RX/Ketoconazole (Nizoral)
RX/Nafarelin (Synarel) acetate/nasal
RX/Spironolactone (Aldactone)
RX/Testolactone {teslac)
Definition

Familial male precocious puberty (also known as testotoxicosis) is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty; Signs of puberty can develop as early as an age of 1 year;----------------------[wikepedia 2006]-----------The final height of boys may be short due to a rapid advance in epiphyseal maturation; It is an autosomal recessive condition with a mutation of the LH receptor; Treatment is with drugs that suppress gonadal steroidogenesis, such as cyproterone acetate, ketoconazole or spironolactone and testolactone; Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene;

Testotoxicosis is a form of male precocious puberty caused by heterogeneous activating mutations in the gene for the lutrophin/choriogonadotrophin receptor (LHR); A patient with an unusually early and severe presentation of testotoxicosis, including profound Leydig cell hyperplasia, was found to have a sporadic mutation encoding Asp578-->Tyr; The severe testotoxicosis phenotype appears to be related to the strongly activating nature of the Tyr substitution------------[medline 2006]-----------------

PRECOCIOUS PUBERTY, MALE-LIMITED; SEXUAL PRECOCITY, FAMILIAL, GONADOTROPIN-INDEPENDENT; TESTOTOXICOSIS, FAMILIAL

TESTIS-STIMULATING FACTOR, INCLUDED; Gene map locus 2p21;

Extremely rapid virilization; Small testes ; Increased gonadotropin-independent gonadal testosterone secretion; Low basal and gonadotropin-releasing hormone-induced secretion of luteinizing hormone (LH); Advanced spermatogenesis on testis biopsy; Novel plasma stimulator of testicular testosterone; Sex-limited autosomal dominant

--------------------------------[OMIM 2005]-----------------

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External Links Related to Familial testotoxicosis/Premature puberty [2p21]
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Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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