6. A Rare Case of Premature Ovarian Insufficiency - Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS)

Abstract

Background

Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is an ultra-rare neurologic disorder characterized by early-onset seizures and impaired intellectual development. The majority of the 81 reported cases are children until puberty and their reproductive health was not discussed. A few studies in pubertal girls reported reproductive health problems: short stature, precocious or delayed puberty, and uterine agenesis.

Case

We present an 18-year-old woman with mild intellectual and developmental delays and almost normal psychomotor development, for whom a genetic diagnosis was established when applying for secondary amenorrhea. Three episodes of febrile convulsions have been documented during the patient's childhood. The timing of secondary sexual characteristics development was on time, with menarche at 10 years old. Her periods were regular with moderate bleeding. She was referred to a gynecologist because of secondary amenorrhea at 16 years old. The physical examination did not show any endocrine or metabolic disease. During a transabdominal ultrasound examination, the uterus hypoplasia was discovered. Hormone tests were performed: FSH 104,8 U/l, LH 45,06 U/l, TTH 1,499 mU/l, Prolactin 251,1 mU/l, Estradiol 57 pmol/l, Testosterone 1,51 nmol/l. The combination of elevated gonadotropins and low estradiol levels identifies hypergonadotropic amenorrhea and suggests premature ovarian insufficiency. The patient was referred to genetics for further evaluation. Because of multisystemic damage, growth retardation, and learning disabilities, without confirming a genetic diagnosis through previous chromosomal karyotype tests, targeted whole exome sequencing (WES) was performed. After WES was completed the patient was diagnosed with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS).

Comments

Poirier-Bienvenu syndrome in literature is analyzed with a focus on epilepsy and neurodevelopment. The period of puberty and menstrual function in those patients is not discussed. This is the first clinical case to suggest that premature ovarian insufficiency is possible in POBINDS patients.