Fanconi anemia is a rare disorder inherited by recessive autosomic transmission belonging to the group of chromosomal instability syndromes. It is characterized by progressively developing medullary aplasia, various congenital malformations and especially a high risk of cancer, particularly acute myeloblastic leukemia and certain solid tumors. The association is quite common in patients with endocrine disease which constitutes an additional factor of morbidity and must be diagnosed and treated. We report a case of Fanconi anemia revealed by severe delay in statural growth and primary amenorrhea with a 21-year-old girl. The diagnosis was suggested by asymptomatic pancytopenia caused by a medullary hypoplasia and confirmed by a cytogenetic investigation using cross-linking agents that showed a large number of chromosomal breaks. Hormonal exploration revealed hypopituitarism with complete growth hormone (GH) deficiency and hypogonadotrophic hypogonadism caused by interruption of the pituitary stalk. The aim of this case report is to illustrate the importance of early exploration of retarded growth which, in some patients, can reveal potentially serious, and treatable, disease.

Déficit en GH par interruption de la tige pituitaire dans l’anémie de Fanconi

Retard de croissance staturopondérale : diagnostic et prise en charge

Ritardo di crescita staturo-ponderale: diagnosi e presa in carico

Retraso del crecimiento ponderoestatural: diagnóstico y tratamiento

Le complexe anatomique hypothalamahypophysaire reçoit de multiples informations en provenance du système nerveux central et des glandes endocrines « périphériques » dont il contrôle les sécrétions. L'atteinte de son intégrité, organique ou fonctionnelle, est responsable d'une faillite plus ou moins rapide, plus ou moins profonde et plus ou moins complète du fonctionnement de ses cibles endocriniennes. La traduction en est un ensemble de signes regroupant symptômes cliniques et perturbations biologiques. L'identification de l'anomalie sécrétoire et du facteur responsable constitue un préalable indispensable à la prise en charge thérapeutique. Cette démarche nécessite l'utilisation d'explorations hormonales et d'investigations morphologiques qui permettent, en outre, de préciser dans la plupart des cas la pathogénie du déficit hormonal.

Insuffisance Antéhypophysaire

Resume L’origine genetique, de plus en plus souvent incriminee Les deficits hypophysaires congenitaux peuvent relever d’une origine genetique alterant le developpement embryonnaire de l’hypophyse. Ce groupe etiologique a connu une grande expansion depuis l’avenement de la biologie moleculaire. De nombreux facteurs de transcription impliques dans l’ontogenese hypophysaire ont ete decouverts et, dans certains cas, leurs mutations ont ete rapportees comme causes de deficits hypophysaires uniques ou multiples. Les deficits hypophysaires congenitaux isoles Ils concernent les lignees somatotrope, gonadotrope et corticotrope. Ils resultent de mutations sur les genes de l’hormone (comme le gene de l’hormone de croissance), d’un facteur regulant sa synthese ou sa secretion (par exemple TPit pour la lignee corticotrope), ou d’un recepteur de ces facteurs (genes des recepteurs de GHRH ou de GnRH). Les deficits hypophysaires congenitaux multiples Ils associent des alterations de secretion concomitantes ou successives de plusieurs hormones hypophysaires. Des mutations de genes de facteurs de transcription impliques precocement dans le developpement hypophysaire (RIEG, HesX1, LHX4, LHX3, Prop1, POU1F1/Pit-1) en sont responsables. Elles sont associees a des phenotypes differents. Pour une meilleure prise en charge Le suivi longitudinal de ces patients et l’etude des mutations dans des groupes de recherche specialises permettront d’etablir des correlations entre genotype et phenotype, aide precieuse a la prise en charge de ces maladies orphelines.

Hypopituitarisme congénital: Quand analyser les gènes de facteurs de transcription?

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Hypopituitarisme congénital: Quand analyser les gènes de facteurs de transcription?