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Background/purpose of the study <p>To identify the causes and clinical characteristics of women with primary amenorrhoea and hypothalamic or pituitary gland disorders.</p> Methods <p>This retrospective study was conducted at a quaternary hospital in southern Thailand. The medical records of women diagnosed with primary amenorrhea and hypothalamic or pituitary gland disorders (hypogonadotropic hypogonadism [HH]) were reviewed. HH was defined as an oestradiol level of &lt; 20&#xa0;pg/mL, decreased (&lt; 5&#xa0;mIU/mL) or normal serum follicle-stimulating hormone (FSH) levels, and no organic disease of the uterus or ovaries.</p> Results <p>Fifty-five women with HH were included. The median (interquartile range [IQR]) age at presentation was 18&#xa0;years (range, 17–20&#xa0;years). Most patients presented with primary amenorrhoea (50/55), followed by primary infertility (3/55). All women had low levels of oestradiol (5&#xa0;pg/mL [5.0–12.1]), FSH (0.8&#xa0;mIU/mL [0.3–3.7]), and luteinising hormone (0.5&#xa0;mIU/mL [0.1–2.3]). The most common cause was hypothalamic dysfunction (80%); including congenital hypogonadotropic hypogonadism (CHH) (43.6%), constitutional delay of growth and puberty (CDGP) (14.5%), and functional hypogonadotropic hypogonadism (FHH) (10.9%). Regarding hypothalamic dysfunction, patients with CHH were significantly older than those with CDGP (20&#xa0;years [17.0–26.5] vs. 16.5&#xa0;years [15.8–17.2]; P = 0.014) and had significantly lower FSH levels compared to those with FHH (0.6&#xa0;mIU/mL [0.3–1.0] vs. 4.5&#xa0;mIU/mL [2.8–5.7]; P = 0.026).</p> Conclusion <p>Hypothalamic dysfunction, particularly CHH, is the most common cause of primary amenorrhoea and HH.</p>

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Aetiology and Clinical Characteristics of Primary Amenorrhoea with Hypothalamic or Pituitary Disorders at a Quaternary Hospital

  • 期刊论文

  • 发表日期：

    2025年3月22日

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  • Krantarat Peeyananjarassri,
  • Satit Klangsin,
  • Saranya Wattanakumtornkul,
  • Kriengsak Dhanaworavibul,
  • Chainarong Choksuchat,
  • Chatpavit Getpook,
  • Chariyawan Charalsawadi,
  • Worathai Maisrikhaww

摘要

Background/purpose of the study

To identify the causes and clinical characteristics of women with primary amenorrhoea and hypothalamic or pituitary gland disorders.

Methods

This retrospective study was conducted at a quaternary hospital in southern Thailand. The medical records of women diagnosed with primary amenorrhea and hypothalamic or pituitary gland disorders (hypogonadotropic hypogonadism [HH]) were reviewed. HH was defined as an oestradiol level of < 20 pg/mL, decreased (< 5 mIU/mL) or normal serum follicle-stimulating hormone (FSH) levels, and no organic disease of the uterus or ovaries.

Results

Fifty-five women with HH were included. The median (interquartile range [IQR]) age at presentation was 18 years (range, 17–20 years). Most patients presented with primary amenorrhoea (50/55), followed by primary infertility (3/55). All women had low levels of oestradiol (5 pg/mL [5.0–12.1]), FSH (0.8 mIU/mL [0.3–3.7]), and luteinising hormone (0.5 mIU/mL [0.1–2.3]). The most common cause was hypothalamic dysfunction (80%); including congenital hypogonadotropic hypogonadism (CHH) (43.6%), constitutional delay of growth and puberty (CDGP) (14.5%), and functional hypogonadotropic hypogonadism (FHH) (10.9%). Regarding hypothalamic dysfunction, patients with CHH were significantly older than those with CDGP (20 years [17.0–26.5] vs. 16.5 years [15.8–17.2]; P = 0.014) and had significantly lower FSH levels compared to those with FHH (0.6 mIU/mL [0.3–1.0] vs. 4.5 mIU/mL [2.8–5.7]; P = 0.026).

Conclusion

Hypothalamic dysfunction, particularly CHH, is the most common cause of primary amenorrhoea and HH.