Genetic Determinants Of
Total Page：16
File Type：pdf, Size：1020Kb
GENETIC DETERMINANTS OF CONGENITAL HYPOPITUITARISM
Address for shipment Dr. Anne Barlier/Dr. Alexandru Saveanu Laboratoire de Biochimie-Biologie Moléculaire Hôpital de la Conception 147 Bd Baille 13385 Marseille cedex 05 FRANCE Phone +33 491 383 916/917/918 Fax : +33 491 383 081 Patient Family Name: Given Name: Date of Birth: Gender: M / F
Date informed consent signed : /…./…./20..../
Physician in charge:
Pr./Dr. ………………………………….……………………………… Address. : ……………………………………………….……………………………… ……………………………………………….………………………………………………… ……………………………………………….………………………………………………… Head of Dept :………….………………………………………………………………… Phone : …………………….…………………Fax :………………………………………… Mail :…………………….………………@……………………………………
GENHYPOPIT 1 version 25/02/2010 Term : Birth Weight (kg): Birth Length (cm) :
Growth Curve (please include with this form)
Bone Age at start of treatment (specify date) :
Signs/symptoms of Pituitary Hormone Deficiency (tick boxes) :
Hypoglycemia Yes No ? Diabetes insipidus Yes No ? Marked frontal bossing Yes No ? Marked nasal bridge Yes No ? Late onset of teeth Yes No ? Microphallus Yes No ? Prolonged icterus Yes No ? Visceral obesity Yes No ? Undescended testes Yes No ? Failure to thrive Yes No ? Delayed puberty Yes No ?
Other signs :
Midline and other abnormalities (tick boxes) :
Choanal atresia Yes No ? Eye abnormalities, Yes No ? If any, detail : : ...... Nystagmus Yes No ? Dental abnormalities Yes No ? Cleft palate Yes No ? Umbilical hernia Yes No ? Other signs/abnormalities/malformations :......
Phénotype résumé :
Déficit prouvé SyntheticD comments: Fonction normale N Inconnu, non évalué ? ou non évaluable Traitement (Oui/non) Si “D”:TRT GH : … O/N ACTH : … O/N PRL : … O/N TSH : … O/N FSH/LH : … O/N Post hypo : … O/N
GENHYPOPIT 2 version 25/02/2010 Hormonal evaluation : baseline Peak Nature and Normal Interpretation : (units) (units) date of test range normal function (baseline) (N), deficit (D) or unknown (?) GH (1) GH (2) ACTH Cortisol PRL/TRH TSH/TRH Free T4 Free T3 FSH/LHRH LH/LHRH Testosterone Estradiol IGF-1 IGFBP3 Other
Pituitary Imaging (please include copy of report if possible) : Type of Imaging: TDM MRI
Anterior Pituitary : Normal Yes No ? Hypoplasia Yes No ? or Hyperplasia Yes No ? Aplasia Yes No ?
Posterior Pituitary : Eutopic Yes No ? Not visible Yes No ? or Ectopic Yes No ?
Anterior Pituitary Height:...... mm
Pituitary Stalk: Visible without injection : Yes No ? Visible after injection : Yes No ?
Other CNS abnormalities at Neuroradiological Imaging : Corpus Callosum abnormality Yes No ? Arnold Chiari Yes No ? Abnormal septum lucidum Yes No ? Optic Nerve Hypoplasia Yes No ? Other :......
Bone Abnormalities (tick boxes) : Sella turcica :...... Persisting basipharyngeal canal :...... Other :......
Abnormal neck rotation or other muscle abnormality : Yes No if Yes, detail :......
GENHYPOPIT 3 version 25/02/2010 Done: Yes No ? Caryotype (if performed, standard or high resolution) : Results :......
Hormone Treatment : From To - somatotroph :...... - corticotroph :...... - thyrotroph :...... - gonadotroph :...... - posterior pituitary :......
Psychomotor retardation, developmental delay Yes No
Comments (Coexistent disease or particular features) : ......
Family Tree(please include) please indicate: - consanguinity - height of family members - date of birth and first name of each family member - hormonal phenotype - coexistent diseases
GENHYPOPIT 4 version 25/02/2010