Girls with Delayed Puberty

M. HashemipourPediatric Endocrinologist

Endocrine and metabolic research center,

Isfahan university of medical sciences

Medical history

A 15 yr old girl came due to delay in appearance of secondary sexual characteristics.

Genital completely femaleShortest in her class

• What do you ask her ?

• The age of onset Puberty in her parents&Sib

• Menarchal age in her mother • past medical history

• What's important in Physical• examination?

• Ht & WT• Hands and feet• Neck• Pubertal stage• Chest• Skin• Eyelids• BP• Abdominal examination

• Ht=130cm• WT=40kg

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

• Crohn disease and ulcerative colitis• Scoliosis

• • What laboratory tests will you request?

first• BA

• BA=14y

Second• Blood hormone levels(FSH,LH)

• They are high

Third

Genetic study

• 45XO

Fourth

Creatinine, blood urea nitrogen,LFTTFTLipid profileFBSHemoglobin A1c

Fifth • Echocardiogram • Karyotyping• Ultrasound of reproductive organs and

kidneys

Discussion

Investigation

• History

• Auxological data

• Pubertal development examination

Mode of Inheritance

• 1 out of every 2,500 female births has Turner Syndrome.

• 45Xo

Turners syndrome XO

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

Additional Health Problems

• * Heart Problems. * Kidney problems.

Symptoms

Height in Adolescence

• Growth failure becomes obvious in adolescence, due to the absence of a pubertal growth spurt

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

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

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

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

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

Every 3-5 yearsCeliac s disease AudiogramCardiac evaluation BMD

• Yearly evaluationHeight, weight,

BP

Creatinine, blood urea nitrogen,

LFT

TFT

Lipid profile

FBS

Hemoglobin A1c

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

Estrogen replacement therapy

• started at age 12-15 years• After 6 months progestin can be added

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

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