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    Precocious Puberty 10.03.2011

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    Emily Eresuma
    This document presents the case of a 6-year-old girl who initially presented with premature breast development and tenderness, and later developed vaginal bleeding. Physical exam revealed a large café-au-lait macule on her lower back. Laboratory results showed elevated estradiol and advanced bone age. Imaging found fibrous dysplasia involving bones in her skull. She was diagnosed with McCune-Albright syndrome, which causes precocious puberty, fibrous bone dysplasia, and café-au-lait macules. Treatment for her precocious puberty will involve aromatase inhibitors rather than leuprolide, as McCune-Albright causes autonomous hyperfunction not responsive to leuprol

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    Precocious Puberty 10.03.2011

    Uploaded by

    Emily Eresuma
    118 views17 pages
    This document presents the case of a 6-year-old girl who initially presented with premature breast development and tenderness, and later developed vaginal bleeding. Physical exam revealed a large café-au-lait macule on her lower back. Laboratory results showed elevated estradiol and advanced bone age. Imaging found fibrous dysplasia involving bones in her skull. She was diagnosed with McCune-Albright syndrome, which causes precocious puberty, fibrous bone dysplasia, and café-au-lait macules. Treatment for her precocious puberty will involve aromatase inhibitors rather than leuprolide, as McCune-Albright causes autonomous hyperfunction not responsive to leuprol

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    This document presents the case of a 6-year-old girl who initially presented with premature breast development and tenderness, and later developed vaginal bleeding. Physical exam revealed a large café-au-lait macule on her lower back. Laboratory results showed elevated estradiol and advanced bone age. Imaging found fibrous dysplasia involving bones in her skull. She was diagnosed with McCune-Albright syndrome, which causes precocious puberty, fibrous bone dysplasia, and café-au-lait macules. Treatment for her precocious puberty will involve aromatase inhibitors rather than leuprolide, as McCune-Albright causes autonomous hyperfunction not responsive to leuprol

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    118 views17 pages

    Precocious Puberty 10.03.2011

    Uploaded by

    Emily Eresuma
    This document presents the case of a 6-year-old girl who initially presented with premature breast development and tenderness, and later developed vaginal bleeding. Physical exam revealed a large café-au-lait macule on her lower back. Laboratory results showed elevated estradiol and advanced bone age. Imaging found fibrous dysplasia involving bones in her skull. She was diagnosed with McCune-Albright syndrome, which causes precocious puberty, fibrous bone dysplasia, and café-au-lait macules. Treatment for her precocious puberty will involve aromatase inhibitors rather than leuprolide, as McCune-Albright causes autonomous hyperfunction not responsive to leuprol

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    of 17

    Patrick Shea MD PGY3

    Case: HPI
    The patient is a 6 year old girl, previously healthy, with normal growth and development. She presents to clinic with 1 week of bilateral breast enlargement and tenderness. Exam findings are normal except for Tanner 2 breast development bilaterally. There is no discharge, and the area is minimally tender. She has no axillary or pubic hair and a normal pre-pubertal GU exam. PCP reassures mom that this is most likely benign premature thelarche.

    Continued
    The patient comes back into the PCP 2 weeks later now with a 2-day history of vaginal bleeding requiring 2-3 pads per day.

    Differential?

    Other findings
    Physical exam: Large coast of Maine caf-au-lait macule on lower back Labs: FSH <0.3, LH 0.1 , testosterone <2.0, estradiol 21 (elevated), TSH 1.77 Imaging: Bone age XR 8y 10mos (chron age 6y2mos) MRI Brain: Fibrous dysplasia involving right upper clivus, right sphenoid sinus, anteroinferior aspect of Rt middle cranial fossa. Question LCH, though characteristics indicate fibrous dysplasia Pelvic u/s: Normal uterus with endometrial thickness 5 mm. Follicles approx 3 mm b/l ovaries.

    McCune-Albright Syndrome
    Mutation of GNAS gene de novo in utero (often mosaic) G-protein becomes constitutively activated Can cause multiple endocrine autonomous hyperfunction Classic triad: Fibrous bone dysplasia, precocious puberty, caf-au-lait macules (Coast of Maine)

    Treatment/Prognosis
    Precocious puberty caused by McCune-Albright will NOT respond to Leuprolide (because the G-protein is autoactivated) SERMs: Faslodex, Tamoxifen (block end-organ estrogen effects) Some studies with aromatase inhibitors (Testolactone>newer kinds like Anastrozole) Higher risk for fractures, pituitary tumors, bony tumors Can be disfiguring depending on bony involvement Short stature, generally ending up below mid-parental height in adulthood (premature growth plate fusion).

    McCune-Albright Syndrome

    Precocious Puberty
    Before age 8 in girls or before age 9 in boys. In boys: testicular enlargement, then adrenarche, then penile enlargement and voice change, then growth spurt. In girls: thelarche, then adrenarche, then growth spurt, then menarche (~2 cm growth left after menarche). In boys, precocity is more likely pathological than delay (constitutional) In girls, precocity is more likely constitutional, whereas delay is more likely pathological.

    Differential?
    CENTRAL: GnRH pulse generator in the hypothalamus is activated PERIPHERAL: Endogenous or exogenous source of exposure to sex steroids, without stimulation by the hypothalamus.

    Central Precocity
    Intracranial damage to inhibitory systems: trauma, radiation, infection Hypothalamic hamartomas: produce pulsatile GnRH Other neoplasms that affect the hypothalamus/pituitary system Langerhans Cell Histiocytosis

    Peripheral causes
    McCune-Albright Syndrome Congenital Adrenal Hyperplasia (steroid shunting) Germ cell tumors Adrenal tumors Gonadal tumors Controversial: Endocrine disruptors, obesity (may be bidirectional depending on gender)

    Work-up
    Complete history particularly of exposures to any sort of exogenous steroids, tea tree oil, lavender oil. Thorough physical exam w/ Tanner staging Labs: FSH, LH, Estradiol, Testosterone, DHEA-S, beta-hCG, CMP, CBC, (salivary cortisol) Imaging: bone age XR, (brain MRI)

    Treatment
    Depends on the cause Leuprolide is a GnRH agonist that works to shut down the pulse generator. (Treatment for CENTRAL PP). If the cause is neoplastic, referral to oncology Aromatase inhibitors for MAS Remove exogenous sources.

    Clinical and Social Importance


    Growth failure, short stature Marker for neoplastic diseases Social problems: aggression in boys, unwanted sexual attention for girls Higher risk for breast cancer for girls later in life. Social risk for girls: Prospective study in Green Journal showed higher rates of criminality, substance abuse, high-risk sexual behavior, and depression.

    Sources
    1. Copeland, et.al. Outcomes of Early Pubertal Timing in Young Women: A Prospective PopulationBased Study Am J Psychiatry 2010; 167:1218-12252. 2. Antoniazzi, F; Zamboni, G (2004). "Central precocious puberty: current treatment options". Paediatric drugs 6 (4): 21131. 3. McKenna, Phil (2007-03-05). "Childhood obesity brings early puberty for girls". New Scientist. Archived from the original on 2008-04-19. http://web.archive.org/web/20080419072722/http://www.newscientist.com/article/dn11307childhood-obesity-brings-early-puberty-for-girls.html. Retrieved 2010-05-22. 4. Cooney, Elizabeth (2010-02-11). "Puberty gap: Obesity splits boys, girls. Adolescent males at top of the BMI chart may be delayed". MSNBC. http://www.msnbc.msn.com/id/35332881/ns/healthkids_and_parenting/. Retrieved 2010-05-22 5. "Early-Onset Puberty Puts Girls at Risk of Medical Problems". redorbit.com. 2007-09-17. http://www.redorbit.com/news/health/1067387/earlyonset_puberty_puts_girls_at_risk_of_medical_ problems/index.html. Retrieved 2009-12-15. 6. Garn, SM. Physical growth and development. In: Friedman SB, Fisher M, Schonberg SK. , editors. Comprehensive Adolescent Health Care. St Louis: Quality Medical Publishing; 1992 7. Sarafoglou, Kyriakie; Hoffman, and Roth: Pediatric Endocrinology and Inborn Errors of Metabolism. Sixth edition: 2009.

    Questions?

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