Catherine Pienkowski

Centre Hospitalier Universitaire de Toulouse — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

33h-index3.9kcitations189works0.72yr avg
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Research Topics

Sexual Differentiation and Disorders(42), Growth Hormone and Insulin-like Growth Factors(31), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities(29), Ovarian function and disorders(16), Ovarian cancer diagnosis and treatment(15)

Publications189 total

Trouble des règles de l’adolescente : conduite à tenir
Journal de Pédiatrie et de Puériculture·2025
A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort
The Journal of Clinical Endocrinology & Metabolism·2025· 3 cited
Genotype-phenotype correlation in patients having a WT1 germline variant : lessons from a large French cohort
Endocrine Abstracts·2025
Variants in <i>NR6A1</i> as a cause for congenital renal, vertebral and uterine anomalies
2025· 3 citedOpen Access
8577 Gonadal function throughout life in XX and XY patients with a germline WT1 variant - lessons from a cohort of 80 patients
Journal of the Endocrine Society·2024Open Access
8577 Gonadal function throughout life in XX and XY patients with a germline WT1 variant - lessons from a cohort of 80 patients
Journal of the Endocrine Society·2024Open Access
Étude GONADVENIR : évolution de la fonction gonadique chez les patient.e.s ayant un variant du gène WT1
Annales d Endocrinologie·2024Open Access
Un nouveau variant d’épissage intronique profond de CYP11B1 est le plus fréquent chez les patients caucasiens atteints de déficits en 11β-hydroxylase : données fonctionnelles, cliniques et hormonales dans 36 familles
Annales d Endocrinologie·2024Open Access
Fonction ovarienne et profil gynécologique des patientes porteuses d’un variant pathogène du gène HNF1 bêta
Annales d Endocrinologie·2024Open Access
Sortir de l’impasse diagnostique dans les insensibilités partielles aux androgènes
Annales d Endocrinologie·2023
Puberté normale et pathologique
Journal de Pédiatrie et de Puériculture·2023
Perinatal, metabolic, and reproductive features in<i>PPARG</i>-related lipodystrophy
European Journal of Endocrinology·2023· 16 citedOpen Access
Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase
Human Reproduction·2022· 10 cited
Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults
The Journal of Clinical Endocrinology & Metabolism·2022· 3 citedOpen Access
Étude de la fonction ovarienne et du profil gynéco-obstétrical des patientes porteuses d’un variant pathogène du gène HNF1B
Gynécologie Obstétrique Fertilité & Sénologie ·2022
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
Orphanet Journal of Rare Diseases·2022· 38 citedOpen Access
Pubertad normal y patológica
EMC - Pediatría·2022
Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families
Fertility and Sterility·2022· 22 citedOpen Access
Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)
Annales d Endocrinologie·2021· 26 cited
Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels
Bone·2021· 18 citedOpen Access
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Frequent Co-authors

M. Tauber(11), Claire Bouvattier(9), Pascal Philibert(8), P Rochiccioli(8), Nicolas Kalfa(8), Françoise Paris(7), Béatrice Jouret(7), Hedi L. Claahsen‐van der Grinten(7), Birgit Köhler(7), Anna Nordenström(7), Nicole Reisch(6), Charles Sultan(5), Françoise Audran(5), Catherine Patte(5), C. Sultan(5), Ute Thyen(5), Serge Lumbroso(4), Juliane Léger(4), Aude Mariani Ecochard(4), A.M. Guedj(4)