ECE2021 Audio Eposter Presentations Reproductive and Developmental Endocrinology (55 abstracts)
Syndromic premature ovarian insufficiency: report of 2 cases with blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Lilia Kraoua 1 , Hana Fredj 1 , Cyrine Adhoum 1 , Ahlem Achour 1 , Faouzi Maazoul 1 , Mediha Trabelsi 1 & Ridha Mrad 1
1Charles Nicolle Hospital, Department of Congenital and Hereditary Diseases, Tunis, Tunisia
Introduction
Premature ovarian insufficiency (POI) is defined by menstrual disturbance (oligomenorrhea or amenorrhea) before 40 years and confirmed by two FSH levels in the menopausal range, obtained at least a month apart. Some POI cases are syndromic such as Turner’s syndrome or Blepharophimosis–Ptosis–Epicanthus inversus Syndrome type 1 (BPES). BPES type 1 (MIM: 110100) is a rare autosomal dominant syndrome caused by mutations in FOXL2, a gene involved in folliculogenesis.
Objective
Here we report two cases with confirmed BPES type 1 collected at the outpatient clinic of the genetic department at Charles Nicolle Hospital in Tunis.
Cases presentation
The patients were referred to genetic consultation for oligomenorrhea and facial dysmorphism. The first case was familial including two affected sisters aged 32 and 38. The second case, a 31 year-old woman, was sporadic. All patients had normal intelligence. Clinical examination of the three patients showed eye abnormalities with blepharophimosis, ptosis and epicanthus inversus, normal secondary sex characteristics, and normal growth. The hormonal tests showed high FSH levels. Their karyotypes were normal: 46, XX. Based on clinical findings, the diagnosis of BPES type 1 was strongly suspected. Direct sequencing of FOXL2 gene showed the presence of a previously reported mutation NM_023067.3:c.655C>T; p. (Gln219*), confirming the diagnosis of BPES.
Conclusion
In case of POI, a careful clinical examination is recommended to look for syndromic causes such as BPES syndrome type1 easily recognizable on the ocular abnormalities, so that appropriate management and adequate genetic counseling could be done.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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