Publications of Sandrine PETIGNOT
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See detailMale and female hypogonadotropic hypogonadism associated with two novel non sense heterozygous mutations of Klotho beta gene (KLB)
VALDES SOCIN, Hernan Gonzalo ULiege; LIBIOULLE, Cécile ULiege; PETIGNOT, Sandrine ULiege et al

Poster (2021, September 17)

Clinical Case 1: A 15-year-old boy, with congenital deafness of the right ear, without olfaction disorders, consults for pubertal and growth retardation (1.59m, 47kg). Bone age of 14 years, GH: 6.4 ng/ml ... [more ▼]

Clinical Case 1: A 15-year-old boy, with congenital deafness of the right ear, without olfaction disorders, consults for pubertal and growth retardation (1.59m, 47kg). Bone age of 14 years, GH: 6.4 ng/ml after ITT, LHRH-stimulateable gonadotropins, testosterone-total 99ng/dl (28-1110 ng/dl). Pituitary MRI is normal. His father and sister had late puberty around the age of 16. The patient treated with GH and Sustanon, reaches 1.77m and 79 kg. At the age of 16, suffering from MS, like his father. At 18 years, the gonadic balance is re-evaluated, normal (bilateral testicular volume: 14 ml). Clinical case 2: A 30 years old woman (1.62m, 61 kg) consults for secondary amenorrhea and infertility after clomiphene stimulation. She is normal weighted. After some left hypoesthesic symptomatology, a brain neuro inflammatory pathology was suspected on MRI (several frontal hyper intense T2 lesions) without a precise diagnosis. No pituitary lesions were identified. During follow up, a normal pregnancy was obtained. She delivered a 3.3 kg girl in 2019 . Genetic analysis: A panel of 61 genes of hypogonadotropic hypogonadism found in case 1 an heterozygous variant KLB c.3092T>A, p.(Leu1031*). This new variant (likely pathogenic, class IV), causes the appearance of a premature stop codon in exon 5 of the KLB gene. In case 2, a novel mutation c.2230_2231insGGTT, p.(Ala744Glyfs*45) was confirmed, causing a frame shift and stop codon (since codon Ala744).. Discussion: We describe two novel non sense KLB mutations and for the first time, a reproductive phenotype in a female affected patient. In our series of 54 consecutive patients with congenital hypogonadotropic hypogonadism sequenced with a panel of 61 candidate genes, KLB mutations represents 3.7% . This prevalence is in line with the 4% finding of Xu. et al(EMBO Mol Med 2017). In the series of XU et al, patients with missense KLB mutations had (n= 9/13) a metabolic syndrome too, unlike our patients, carrying a nonsense mutation. In mice, the loss of the klb gene leads to delayed puberty, impaired estrogenic cycle, subfertility. The association with multiple sclerosis/brain inflammatory lesions is intriguing, so other family members will be studied. [less ▲]

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See detailUn cas illustratif de syndrome de POEMS
RADERMECKER, Alexandra ULiege; BONNET, Christophe ULiege; LUTTERI, Laurence ULiege et al

in Revue Médicale de Liège (2021), 76

POEMS syndrome is a rare and invalidating entity characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and dermatoses. The diagnosis of this condition is often late and ... [more ▼]

POEMS syndrome is a rare and invalidating entity characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and dermatoses. The diagnosis of this condition is often late and challenging due to the heterogeneity of clinical forms. The light chains secreted by the clonal plasmocytes cause overproduction of VEGF (Vascular Endothelial Growth Factor) responsible for the appearance of the clinical manifestations of POEMS. The diagnostic approach is based on different clinical and biological criteria. Patients with a solitary plasmacytoma are candidates for radiotherapy treatment. Patients with diffuse bone involvement or bone marrow infiltration are best treated by systemic drugs. The response to treatment may take several months before clinical and biological improvement. Early diagnosis and dedicated management limit the clinico-functional impact of POEMS. [less ▲]

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See detailEpidemiological, biochemical, genetical aspects of pheochromocytomas and paragangliomas followed in CHU of Liège between 1993 and 2017
PETIGNOT, Sandrine ULiege; VROONEN, Laurent ULiege; HAMOIR, Etienne ULiege et al

in Abstract book - 28th meeting of the Belgian Endocrine Society (2018, October)

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See detailL'hyperthyroidie neonatale: clinique et prise en charge therapeutique.
PETIGNOT, Sandrine ULiege; NYAMUGABO MUNYERE NKANA, Kindja ULiege; VALDES SOCIN, Hernan Gonzalo ULiege et al

in Revue Médicale de Liège (2013), 68(10), 531-6

Neonatal hyperthyroidism is a rare pathology, most often the consequence of Graves' disease in the mother. Around 0.2% of pregnant women have Graves disease and 1 to 2% of newborns of mother with Graves ... [more ▼]

Neonatal hyperthyroidism is a rare pathology, most often the consequence of Graves' disease in the mother. Around 0.2% of pregnant women have Graves disease and 1 to 2% of newborns of mother with Graves' disease. This article will describe the case of 4 newborns who have been diagnosed and treated in CHU-NDB between 2007 and 2011. The second part will focus on the new recommendations about the management of these young patients from foetal period to birth. [less ▲]

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