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Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center

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Abstract

The cause of the primary ovarian insufficiency (POI) remains unknown in the majority of cases. A retrospective study was carried out in 17 girls with POI and normal 46,XX karyotype evaluated before 20 years of age. The etiology of POI was determined in eight girls (group 1) and remained idiopathic in nine girls (group 2). In group 1, five patients had a medical history: cerebellar ataxia due to congenital disorder of glycosylation (CDG) 1 in three cases, mitochondrial disease in one case, and autoimmune deficiencies in one case. The diagnosis of POI was made on pubertal delay or primary amenorrhea in these five patients, whilst the others presented with clitoral hypertrophy at birth or short stature and pubertal delay in two cases with NR5A1 mutation or with short stature and learning difficulties in one case with mitochondrial disease. In group 2, associated diseases were arthrogryposis malformative, gut, and bladder malformations and kidney failure or parieto-occipital tumor. The genes tested (NR5A1, BMP15, GDF9, and NOBOX) showed no mutation.

Conclusions: The frequency of defined etiologies (47 %) is high. This is probably because of the recruitment of the cases at the pediatric center, where other somatic anomalies can lead to the accurate determination of the etiology.

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Abbreviations

AMH:

Anti-Müllerian hormone

BMI:

Body mass index

CDG:

Congenital disorder of glycosylation

FSH:

Follicle-stimulating hormone

IUGR:

Intrauterine growth retardation

LH:

Luteinizing hormone

POI:

Primary ovarian insufficiency

POLG :

DNA polymerase gamma

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Acknowledgments

We thank the physicians who send to us their patients: Dr. Barbier, Hôpital Cochin Port Royal 75014 (case 1); Pr. Munnich, Hôpital Necker Enfants Malades 75015 (cases 4 and 8); Dr. Bouhanna, Créteil 94000 (case 3); Dr. Bader, Corbeil-Essones 91100 (case 5); Pr. Saudubray, Hôpital Necker Enfants Malades 75015 (case 6); Pr. Ponsot, Hôpital Armand Trousseau 75012 (case 7); Pr. Ricour, Hôpital Necker Enfants Malades 75015 (case 9); Pr. Zerah, Hôpital Necker Enfants Malades 75015 (case 10); Dr. Seguy, Les Mureaux 78130 (case 12); Dr. Darmon, Gonesse 95500 (case 13); Dr. Jaudel, Evry 91000 (case 14); Pr. Estournet, Hôpital Raymond Poincaré 92380 (case 15); Dr. Andro, Boulogne 92100 (case 16); and Pr. Guermazi, Boston, USA (case 17).

Conflict of interest

The authors have declared that no conflict of interest exists and that this research was not sponsored.

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Authors and Affiliations

  1. Université Paris Descartes and Fondation Ophtalmologique Adolphe de Rothschild, Paris, France

    Raja Brauner & Sophie Pierrepont

  2. Human Developmental Genetics, Institut Pasteur, Paris, France

    Joelle Bignon-Topalovic, Ken McElreavey & Anu Bashamboo

Authors
  1. Raja Brauner
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  2. Sophie Pierrepont
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  3. Joelle Bignon-Topalovic
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  4. Ken McElreavey
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  5. Anu Bashamboo
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Corresponding authors

Correspondence to Raja Brauner or Anu Bashamboo.

Additional information

Communicated by Jaan Toelen

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Brauner, R., Pierrepont, S., Bignon-Topalovic, J. et al. Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center. Eur J Pediatr 174, 767–773 (2015). https://doi.org/10.1007/s00431-014-2457-5

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  • DOI: https://doi.org/10.1007/s00431-014-2457-5

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