ESPE Questionnaire* on
European Practise in Diagnosis and Management of
Patients with Adrenal Hypoplasia Congenita (AHC)
Please give your
Name:
__________________________________________________________________
Department:
__________________________________________________________________
Address:
__________________________________________________________________
__________________________________________________________________
Date:
___________________________
Signature: ___________________________
Did you participate in the ESPE questionnaire on European practise in diagnosis and management of
□ YES
Congenital Adrenal Hyperplasia (CAH)?
□ NO
Are you actively involved in treating AHC patients or patients suffering from primary adrenal
□ YES
insufficiency (female and male patients)?
□ NO
If answer is NO, please return page 1 to the address below.
How many patients with proven AHC do you (or your unit) see:
Etiology
Patients (n=)
Male (n=)
Female (n=)
DAX1 defect
“Idiopathic”
How many patients with primary adrenal insufficiency not due to autoimmune adrenalitis do
you (or your unit) see:
Etiology
Patients (n=)
Male (n=)
Female (n=)
Molecular defect, mutational analysis in your AHC patients
□ YES
Performed?
Which genes were investigated?
Mutation detected
Gene
YES (n=) NO (n=)
DAX1
SF1
MC2R
XALD
□ NO
Remarks and comments (e.g. mutation)
For each of your AHC patients, we ask you to fill the pages 2-5 separately.
Extra copies of pages 2-5 can be either copied or downloaded:
*This
questionnaire is also available at http://www.uni-kiel.de/pediatrics/endoengl.html as word or pdf file.
Prof. Dr. Wolfgang G. Sippell
Dr. Nils Krone
University Children’s Hospital
Christian-Albrechts-Universität, Kiel
Schwanenweg 20
D-24105 Kiel
GERMANY
Phone:
Fax:
e-mail:
+ 49 431 597 1626
1797
+ 49 431 597 1675
sippell@pediatrics.uni-kiel.de
krone@pediatrics.uni-kiel.de
ESPE questionnaire on European practise in diagnosis and management of Patients with Adrenal Hypoplasia Congenita (AHC)
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page 2 / 5
ESPE-Questionnaire on an individual AHC patient
Patient’s identification code
(please choose and do not alter)
History
Family history regarding AHC (e.g. deceased brother/uncle, pubertal development of mother
and sisters, menarcheal age of mother and sisters)
Menarcheal age mother
Menarcheal age sister(1)
Menarcheal age sister(2)
/
/
/
yr
yr
Age at first manifestation
/
yr yr / mo mo
/
mo
mo
Age at diagnosis
/
yr yr / mo
mo
Diagnosis
Clinical findings, laboratory findings before/ at diagnosis
YES NO Remarks (e.g. value, complications)
Prolonged jaundice
□
□
Poor feeding
□
□
Failure to thrive
□
□
Vomiting
□
□
Dehydration
□
□
Hypotension
□
□
Cyanosis
□
□
Seizures
□
□
Apnoea
□
□
Hyperpigmentation
□
□
Hyponatremia
□
□
Hyperkalemia
□
□
Salt wasting
□
□
Hypoglycemia
□
□
Metabolic acidosis
□
□
Others:
Mutation analysis
Gene:
Mutation:
Lab:
ESPE questionnaire on European practise in diagnosis and management of Patients with Adrenal Hypoplasia Congenita (AHC)
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page 3 / 5
ESPE-Questionnaire on an individual AHC patient
Patient’s identification code
Hormone levels at diagnosis
Pituitary-adrenal hormones/ renin (plasma or serum)
Stimulation test(s)
YES □
NO □
If yes, please give details (drug and dose):
Date
Value
basal
stimulated
ACTH
DHEA
DHEA-S
Androstenedione
17-Hydroxypregnenolone
17-Hydroxyprogesterone
11-Deoxycortisol
Cortisol
Progesterone
11-Deoxycorticosterone (DOC)
18-OH-DOC
Corticosterone (B)
18-OH-B
Aldosterone
PRA or direct Renin
Other:
Pituitary-gonadal hormones (plasma or serum)
Stimulation test(s)
YES □
NO □
If yes, please give details (drug and dose):
Test Drug
Date
Value
basal
stimulated
LH
FSH
Prolactin
Testosterone
Oestradiol
Other:
Other hormones/metabolites (e.g. urinary steroid analysis)
Date
Value
Age specific
ref. range
Unit
Age specific
ref. range
Unit
Age specific
ref. range
Unit
ESPE questionnaire on European practise in diagnosis and management of Patients with Adrenal Hypoplasia Congenita (AHC)
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page 4 / 5
ESPE-Questionnaire on an individual AHC patient
Patient’s identification code
Follow-up (1)
Hormonal substitution therapy
Date
Medication
Dose
Induction of puberty
Date
Medication
Dose
Growth and puberty
Date
Height
Weight
Bone age* Pubic hair stage
Genital stage TVol. left/ right
/
/
/
/
/
/
/
/
*
Please indicate if other than Greulich & Pyle method
Maternal height [cm]
Paternal height [cm]
Patient’s final height [cm]
Complications: e.g. adrenal (Addisonian) crises; mental retardation; mortality
Date
Hypogonadism: Results of treatment, sperm count, fertility, proven offspring
Date
ESPE questionnaire on European practise in diagnosis and management of Patients with Adrenal Hypoplasia Congenita (AHC)
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page 5 / 5
ESPE-Questionnaire on an individual AHC patient
Patient’s identification code
Follow up (2)
Education and occupational level/unemployment
Date
Hormonal evaluation(s) during follow-up (e.g. GnRH test, GnRH profiles, sex steroids, etc.)
Date
Test
Hormone
Unit
Age specific ref. range
Additional diseases (e.g. inner ear deafness), secondary complications (e.g. osteoporosis)
Date
Additional remarks
Date
Signature
Address
Please send or e-mail the completed questionnaire:
Prof. Dr. Wolfgang G. Sippell
Dr. Nils Krone
University Children’s Hospital
Christian-Albrechts-Universität, Kiel
Schwanenweg 20
D-24105 Kiel
GERMANY
Phone: + 49 431 597 1626 or 1797
Fax:
+ 49 431 597 1675
e-mail: sippell@pediatrics.uni-kiel.de
krone@pediatrics.uni-kiel.de
ESPE questionnaire on European practise in diagnosis and management of Patients with Adrenal Hypoplasia Congenita (AHC)
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