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Master thesis

Caractéristiques cliniques, biologiques, radiologiques et moléculaires des hypogonadismes hypogonadotropes isolés avec ou sans anosmie: à propos de 23 cas observés en pédiatrie

Abstract : Aetiological diagnosis of delayed puberty must distinguish simple ones from hypo- and hypergonadotropic hypogonadisms.The aim of this retrospective study is to describe clinical, biological, radiological and molecular features of isolated hypogonadotropic hypogonadisms whith or without anosmia. 23 pediatric cases followed at Lyon university hospital were included : 16 of these patients had Kallmann syndrom and 7 of them suffered from isolated hypogonadotropic hypogonadism without anosmia. Bilateral cryptorchidism associated with micropenis, synkinesia, midline craniofacial abnomalities, olfactory bulbs and sulci hypoplasia on MRI scans were specifie of Kallmann syndrom. 2 KAL 1 and 3 FGR1 mutations had been found among Kallmann syndrom patients. One GnRH receptor mutation had been found among patients with isolated hypogonadotropic hypogonadism without anosmia. Molecular abnormalities were more frequent in familial cases. Genetic studies remain difficult when sporadic cases, as weil as genetic counseling regarding intra-familial variable expressivity.
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Master thesis
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https://hal.univ-lorraine.fr/hal-01733996
Contributor : Colette Orange <>
Submitted on : Wednesday, March 14, 2018 - 4:19:05 PM
Last modification on : Friday, May 1, 2020 - 3:37:10 PM
Long-term archiving on: : Wednesday, September 5, 2018 - 11:10:24 AM

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  • HAL Id : hal-01733996, version 1

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Virginie Leplatre. Caractéristiques cliniques, biologiques, radiologiques et moléculaires des hypogonadismes hypogonadotropes isolés avec ou sans anosmie: à propos de 23 cas observés en pédiatrie. Sciences du Vivant [q-bio]. 2006. ⟨hal-01733996⟩

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