<p> GENETIC DETERMINANTS OF CONGENITAL HYPOPITUITARISM</p><p>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</p><p>Date informed consent signed : /…./…./20..../</p><p>Physician in charge:</p><p>Pr./Dr. ………………………………….……………………………… Address. : ……………………………………………….……………………………… ……………………………………………….………………………………………………… ……………………………………………….………………………………………………… Head of Dept :………….………………………………………………………………… Phone : …………………….…………………Fax :………………………………………… Mail :…………………….………………@……………………………………</p><p>GENHYPOPIT 1 version 25/02/2010  Term : Birth Weight (kg): Birth Length (cm) :</p><p> Growth Curve (please include with this form)</p><p> Bone Age at start of treatment (specify date) :</p><p> Signs/symptoms of Pituitary Hormone Deficiency (tick boxes) :</p><p>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  ?</p><p>Other signs :</p><p> Midline and other abnormalities (tick boxes) :</p><p>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 :...... </p><p>Phénotype résumé :</p><p>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</p><p>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</p><p> Pituitary Imaging (please include copy of report if possible) : Type of Imaging:  TDM  MRI</p><p>Anterior Pituitary : Normal  Yes  No  ? Hypoplasia  Yes  No  ? or Hyperplasia  Yes  No  ? Aplasia  Yes  No  ?</p><p>Posterior Pituitary : Eutopic  Yes  No  ? Not visible  Yes  No  ? or Ectopic  Yes  No  ?</p><p>Anterior Pituitary Height:...... mm</p><p>Pituitary Stalk: Visible without injection :  Yes  No  ? Visible after injection :  Yes  No  ?</p><p> 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 :...... </p><p> Bone Abnormalities (tick boxes) :  Sella turcica :......  Persisting basipharyngeal canal :......  Other :...... </p><p> Abnormal neck rotation or other muscle abnormality :  Yes  No if Yes, detail :...... </p><p>GENHYPOPIT 3 version 25/02/2010 Done:  Yes  No  ? Caryotype (if performed, standard or high resolution) : Results :...... </p><p> Hormone Treatment : From To - somatotroph :...... - corticotroph :...... - thyrotroph :...... - gonadotroph :...... - posterior pituitary :...... </p><p> Psychomotor retardation, developmental delay  Yes  No</p><p> Comments (Coexistent disease or particular features) : ...... </p><p> 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</p><p>GENHYPOPIT 4 version 25/02/2010</p>