Noncytotoxic-Related Primary Ovarian Insufficiency in Adolescents: Multicenter Case Series and Review

Kanner, Lauren A.; Hakim, Julie; Kankanamge, Christina Davis; Patel, Vaibhav B.; Yu, Vivian; Podany, Emily L; Gómez-Lobo, Veronica

doi:10.1016/j.jpag.2018.06.006

Cited by 8 publications

(4 citation statements)

References 20 publications

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“…The diagnostic increase in FSH level varies according (60). POI in adolescence or presenting as primary amenorrhea is rare and most often associated with chromosomal aberrations or iatrogenic causes such as previous cytotoxic treatment (chemotherapy or radiation therapy) (61,62). In a large Chinese POI cohort of 955 women, primary amenorrhea was observed in 14% and chromosomal abnormality was found in 30.7% of them (63).…”

Section: Premature Ovarian Insufficiency (Poi)mentioning

confidence: 99%

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MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary amenorrhea and female delayed puberty

Seppä

Kuiri-Hänninen

Holopainen

et al. 2021

European Journal of Endocrinology

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Puberty is the period of transition from childhood to adulthood characterized by the attainment of adult height and body composition, accrual of bone strength and the acquisition of secondary sexual characteristics, psychosocial maturation and reproductive capacity. In girls, menarche is a late marker of puberty. Primary amenorrhea is defined as the absence of menarche in ≥15-year-old females with developed secondary sexual characteristics and normal growth or that in ≥13-year-old females without signs of pubertal development. Furthermore, evaluation for primary amenorrhea should be considered in the absence of menarche three years after thelarche (start of breast development) or five years after thelarce, if that occurred before the age of 10 years. A variety of disorders in the hypothalamus-pituitary-ovarian axis can lead to primary amenorrhea with delayed, arrested or normal pubertal development. Etiologies can be categorized as hypothalamic or pituitary disorders causing hypogonadotropic hypogonadism, gonadal disorders causing hypergonadotropic hypogonadism, disorders of other endocrine glands, and congenital utero-vaginal anomalies. This article gives a comprehensive review of the etiologies, diagnostics and management of primary amenorrhea from the perspective of pediatric endocrinologists and gynecologists. The goals of treatment vary depending on both the etiology and patient; with timely etiological diagnostics fertility may be attained even in those situations where no curable treatment exists.

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Section: Premature Ovarian Insufficiency (Poi)mentioning

confidence: 99%

“…Turner syndrome is the most common non-iatrogenic cause of POI in adolescents (61,62). The incidence of Turner syndrome is approximately 50/100 000 females (67).…”

Section: Turner Syndromementioning

confidence: 99%

MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary amenorrhea and female delayed puberty

Seppä

Kuiri-Hänninen

Holopainen

et al. 2021

European Journal of Endocrinology

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“…Premature ovarian insufficiency (POI) ranges from 1 in 100 to 1 in 10,000 for women aged younger than 40 years with increasing prevalence at each decade of life and is specifically uncommon in adolescents. POI is characterized by severe estrogen deficiency due to a loss of ovarian function, which can be congenital or acquired [14]. The prevalence of known gene alterations that may be linked to PA is estimated at ~20%.…”

Section: Functional Hypothalamic Amenorrheamentioning

confidence: 99%

Primary Amenorrhea in Adolescents: Approach to Diagnosis and Management

et al. 2023

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Primary amenorrhea (PA) describes the complete absence of menses by the age of 15 years. It is a devastating diagnosis that can affect the adolescent’s view of her femininity, sexuality, fertility and self-image. A normal menstrual cycle can occur only in the presence of: a properly functioning hypothalamus–pituitary axis, well-developed and active ovaries, outflow tract without abnormalities. Any dysfunction in any of these players can result in amenorrhea. PA evaluation includes the patient’s medical history, physical examination, pelvic ultrasonography and initial hormone evaluation, limited to the serum-follicle-stimulating hormone (FSH) and luteinizing hormone, testosterone and prolactin. A karyotype should be obtained in all adolescents with high FSH serum levels. The main causes of PA, whether or not accompanied by secondary sexual characteristics, include endocrine defects of the hypothalamus–pituitary–ovarian axis, genetic defects of the ovary, metabolic diseases, autoimmune diseases, infections, iatrogenic causes (radiotherapy, chemotherapy), environmental factors and Müllerian tract defects. PA management depends on the underlying causes. Estrogen replacement therapy at puberty has mainly been based on personal experience. PA can be due to endocrine, genetic, metabolic, anatomical and environmental disorders that may have severe implications on reproductive health later in life. In some complex cases, a multidisciplinary team best manages the adolescent, including a pediatrician endocrinologist, gynecologist, geneticist, surgeon, radiologist, and psychologist.

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“…An additional article in this issue of JPAG that relates to the menstrual cycle is a report by Kanner and colleagues of a multicenter case series of patients with noncytotoxicrelated primary ovarian insufficiency (POI). 14 The strength of this study is that is a multisite case series, which is important when it comes to rare conditions, such as noncytotoxic-related POI. The authors conclude that there is a great deal of variability in the evaluation and management of these patients, as documented in the electronic medical records they reviewed.…”

mentioning

confidence: 99%

Menstrual Cycles: Who Cares? We All Should

Hillard¹

2018

Journal of Pediatric and Adolescent Gynecology

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Noncytotoxic-Related Primary Ovarian Insufficiency in Adolescents: Multicenter Case Series and Review

Abstract: Noncytotoxic POI in adolescents is an uncommon condition with, to our knowledge, only 64 cases in 6 institutions over 7 years. These patients might not undergo complete etiological workup. Aside from 45X, the most common etiologies were X-chromosome abnormalities or galactosemia.

Cited by 8 publications

References 20 publications

MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary amenorrhea and female delayed puberty

MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary amenorrhea and female delayed puberty

Primary Amenorrhea in Adolescents: Approach to Diagnosis and Management

Menstrual Cycles: Who Cares? We All Should

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