Primary amenorrhea in adolescents: a deep dive into the causes and characteristics

Ilayda Altun; Elvan Bayramoğlu; Hasan Karakas; Haşlak Gokce Velioğlu; Mert Ucar; Abdurrahman Guney; Hande Turan; Olcay Evliyaoglu

doi:10.1530/endoabs.110.EP1366

JOINT761

Introduction: Primary amenorrhea is a failure to menstruate by the age of 15 in the presence or absence of pubertal development or by the age of 13 without signs of puberty. Pathologiesvin any of functional and structural components of the hypothalamus, the pituitary, the ovaries and the genital out flow tract, other endocrine problems can lead to amenorrhea. To date, only a few studies have attempted to characterize the causes of pediatric patients with primary amenorrhea. This study aimed to identify the causes and clinical characteristics of adolescents presenting with primary amenorrhea.

Methods: Medical records of adolescents with primary amenorrhea between 2010 and 2025 years were retrospectively reviewed. Data were abstracted on patient’s medical history, etiology of primary amenorrhea, laboratory evaluation, imaging results and genetic analyzes.

Results: The study included 53 children who met the criteria for primary amenorrhea. Hypergonadotropic hypogonadism, hypogonadotropic hypogonadism, congenital mullerian defects and other endocrine disorders were diagnosed in 27(51%),6(11.3%),9(17%) and 11(20.8%) of the patients respectively. Among the patients diagnosed with hypergonadotropic hypogonadism and POI; 16 (30.19%) had normal 46XX karyotype. MRPS22, MCM9, CLPP, FMR1 premutation, FSHR variations were detected in 5(9.43%) patients with normal 46,XX karyotype. Gonadal dysgenesis was determined ın 11(20.75%) patients. Systemic other endocrine causes of primer amenorrhea (adrenal disease, prolactinoma, malnutrition, 5 alpha reductase deficiency, androgen insensitivity syndrome, 46XY ovotesticuler syndrome) were diagnosed in 11(20.8%) patients. Müllerian agenesis with normal female sexual characteristics was found in 9(16.98%) patients. Etiology of primary amenorrhea is summarized in table 1.

Table 1: Etiology of primary amenorrhea.
Hypergonadotropic Hypogonadism n = 27(51%)	Hypogonadotropic Hypogonadism n = 6(11.3%)	Congenital Mullerian Defects n = 9(17%)	Other Endocrine Disorders n = 11(20.8%)
Normal 46 XX karyotype n = 16(30.19%) cytotoxic chemotherapy n = 3(5.66%), galactosemia n = 1(1.89%), mucopolysacharodsois n = 1(1.89%) MRPS22, MCM9, CLPP, FMR1 premutation, FSHR variations n = 5(9.43%) Idiopathic n = 6(11.32%)	FGFR1 mutation n = 1(1.89%), PNPLA6 gene n = 1(1.89%), Pituatary adenom n = 1(1.89%) Idiopathic n = 3(5.66%),		Adrenal disease n = 1(1.89%) Prolactinoma n = 1(1.89%) Malnutrition n = 3(5.66%) 5 alpha reductase deficiency n = 2(3.77%) Androgen insensitivity syndrome n = 3(5.66%) 46 XY ovotesticuler syndrome n = 1(1.89%)
Gonadal dysgenesis n = 11(20.75%) 45,X0 n = 5(9.43%), 46XX/45X n = 1(1.89%), 46XY/45X0 n = 2(3.77%), 46 XY n = 3 (5.66%).

Conclusions: In our study, we found that the most common cause of primary amenorrhea is POI with normal karyotype, followed by systemic endocrine diseases. Chromomosamal abnormalities were the most cause of POI in adult studies. This study shows that in adolescent patients with POI other systemic and genetic factors should also be sought.

Keywords: Primary amenorrhea, Primary ovarian insufficiency(POI).

Endocrine Abstracts

EP1366