Patient case (clinical description): A 9-year-old girl is brought to the office for evaluation of short stature and overweight body habitus. The patient's mother and father are 170 cm and 181 cm tall, respectively.  On physical examination, the patient's height is in the 5th percentile of her age.  Other findings include low-set ears, a high arched palate, a webbed neck, and cubitus valgus.  Chromosomal analysis reveals a 45, XO karyotype.

Patient's own account: I took my 9-year-old daughter to the doctor because my mother-in-law kept saying she seemed small and overweight. My husband and I are 170 cm and 181 cm tall, respectively. The physical health highlighted that she is in the 5th percentile of her age. The doctor said that she has low-set ears, a high-arched palate, a webbed neck, and cubitus valgus. She also did a chromosomal analysis, which revealed a 45, XO karyotype.

Clinical trial: Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome

Eligibility criteria:
INCLUSION CRITERIA

        All subjects will be outpatients.

        Patients must be females with Turner's syndrome diagnosed by leukocyte karyotype

        Chronologic age greater than or equal to 5 years.

        Prepubertal Tanner I status. If breast development is Tanner II or III, demonstration of
        castrate status through measurement of serum FSH (greater than 12 MIU/ML).

        All patients must be below the 10th percentile for chronologic age.

        Patients must have at least 6 months accurate, growth measurements available for
        calculation of pre-study growth velocity. Pretreatment measurements must be obtained during
        a time when the patient is not receiving a potential growth-promoting agent.

        Patients judged to be thyroxine deficient must have replacement which has resulted in
        normal thyroid function tests over the three-month period prior to enrollment (T4, T3,
        Thyroid Stimulating Hormone).

        Patients and/or parents or legal guardians of patients must sign an informed consent
        statement. Assent should be obtained from all patients competent to understand the
        protocol. Local IRB requirements apply.

        EXCLUSION CRITERIA

        Patients who have received any form of human growth hormone within the past 3 months, or
        who have received a cumulative course of therapy totaling greater than one year.

        Patients who have received treatment with estrogen or androgen in the past three months or
        who have received a cumulative course of therapy totaling greater than one year.

        Patients who have any Y component in their chromosome analysis.

        Patients with a chronologic age greater than 12 years.

        Patients with a bone age greater than 12 years.

        Patients who have clinically significant cardiac, pulmonary, gastrointestinal, hepatic or
        renal disease or who have had any malignancy.

        Patients who have significant hematuria or proteinuria in pretherapy evaluation.

        Patients who have diabetes mellitus.

        Patients who have any active chronic infection (tuberculosis).

        Patients who are taking amphetamines or any other drugs known to interfere with growth
        hormone secretion or actions.

        Patients who are poor medical, psychological, or psychiatric risks for whom, in the opinion
        of the principal investigator, the investigational drug would be unwise.

        Patients whose parents are substance abusers, nor those who come from homes in which
        appropriate emotional development may be limited.

        Patients who cannot be seen on the schedule required by the protocol.
Female
No healthy subjects accepted to join the trial.



Eligibility (NLI label): Entailment