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Girls with Delayed Puberty
M. HashemipourPediatric Endocrinologist
Endocrine and metabolic research center,
Isfahan university of medical sciences
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Medical history
A 15 yr old girl came due to delay in appearance of secondary sexual characteristics.
Genital completely femaleShortest in her class
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• What do you ask her ?
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• The age of onset Puberty in her parents&Sib
• Menarchal age in her mother • past medical history
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• What's important in Physical• examination?
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• Ht & WT• Hands and feet• Neck• Pubertal stage• Chest• Skin• Eyelids• BP• Abdominal examination
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• Ht=130cm• WT=40kg
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Physical examination?
• Low set Ears• LOW Hairline• A high arched palate• Hypoplastic or hyperconvex nails• Excessive numbers of nevi• Cubitus valgus (increased carrying angle)• Serous otitis media
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• Crohn disease and ulcerative colitis• Scoliosis
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• • What laboratory tests will you request?
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first• BA
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• BA=14y
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Second• Blood hormone levels(FSH,LH)
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• They are high
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Third
Genetic study
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• 45XO
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Fourth
Creatinine, blood urea nitrogen,LFTTFTLipid profileFBSHemoglobin A1c
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Fifth • Echocardiogram • Karyotyping• Ultrasound of reproductive organs and
kidneys
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Discussion
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Investigation
• History
• Auxological data
• Pubertal development examination
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Mode of Inheritance
• 1 out of every 2,500 female births has Turner Syndrome.
• 45Xo
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Turners syndrome XO
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Symptoms
Swollen hands and feet Wide and webbed neck Absent or incomplete development at puberty, including
sparse pubic hair and small breasts Broad, flat chest shaped like a shield Drooping eyelids Short height Vaginal dryness Low-set ears. Low hairline at back of neck
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Additional Health Problems
• * Heart Problems. * Kidney problems.
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Symptoms
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Height in Adolescence
• Growth failure becomes obvious in adolescence, due to the absence of a pubertal growth spurt
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Final Height
in TS is affected by parental Height Ethnicity
untreated adults with TS are
approximately 20cm shorter than
expected from mid-parental target height
The mean final height is 142.9 cm
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Health problems in Turner syndrome
Normal US 85%Dilatation of the Urinary collecting system 10 %
• Duplication of the urinary collecting system5%• Hypothyroid 25%• Hashimoto thyroiditis
• Journal of Research in Medical Sciences 2007; Vol 12, No 2
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Health problems in Turner syndrome
• CS H 27.5%
• Sensorineural hearing loss 32.5%• Normal hearing 37.5% • Otitis media 40%
• Journal of Research in Medical Sciences 2007; Vol 12, No 2
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Health problems in Turner syndrome
• Cardiac abnormalities 62.5%• Multiple anomalies. 32%• Most common anomaly was mitral valve
prolapse• HTN 20%• Repeated at 5 yr intervals to assess
• Journal of Research in Medical Sciences 2007; Vol 12, No 2
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Health problems in Turner syndrome
• Hypercholesterolemia 30%• Hypertriglyceridemia. 32.5% • LDL-C>95th 15% • HDL-C <5th 7.5%• . No case of abnormal blood glucose was
found• Journal of Research in Medical Sciences 2007; Vol 12, No 2
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Every 3-5 yearsCeliac s disease AudiogramCardiac evaluation BMD
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• Yearly evaluationHeight, weight,
BP
Creatinine, blood urea nitrogen,
LFT
TFT
Lipid profile
FBS
Hemoglobin A1c
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GH Treatment
Should be initiated the height falls
• which occurs between two and five years of age
• FDA approved for use in TS in late 1996• 0.375 mg/kg/wk
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Estrogen replacement therapy
• started at age 12-15 years• After 6 months progestin can be added
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Treatment Conjugated estrogen 0.15 mg/d or 0.3 mg
on alternate day
Ethinylestradiol 0.05 – 0.1 ug/kg/d, 2.5 – 5 ug/d
Adult woman: conjugated E 0.6 – 1.25 mg
ethinylestradiol 10 -20 ug
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When spotting occurs or 6 months of treatment with 0.6 mg conjugated E or 10 ug ethinylestradiol
cyclic progesterone should be added 5 – 10 mg 12 – 14 days every month
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