Pubertal Development and Pregnancy Outcomes in 46,XX Patients with Nonclassic Lipoid Congenital Adrenal Hyperplasia

Naomi Hatabu, Naoko Amano, Jun Mori, Yukihiro Hasegawa, Hiroki Matsuura, Naofumi Sumitomo, Kazumichi Nishizawa, Mariko Suzuki, Satomi Katakura, Naokazu Kanamoto, Tsutomu Kamimaki, Tomohiro Ishii, Tomonobu Hasegawa

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)


Context: Lipoid congenital adrenal hyperplasia (LCAH) is characterized by a disorder of steroidogenesis in both adrenal glands and gonads. 46,XX patients with classic LCAH usually have thelarche and menarche but show anovulatory menstruations and subsequent premature menopause. Only three patients with classic LCAH have been reported to successfully achieve delivery with the aid of assisted reproductive therapies for conception and progesterone replacement therapy during early pregnancy. In contrast, pubertal development and pregnancy outcomes in patients with nonclassic LCAH have not been fully elucidated. Case Description: We report four Japanese women who had a diagnosis of primary adrenal insufficiency during infancy or childhood and carried compound heterozygous STAR mutations (p.Gln258∗ and p.Arg188His, p.Gln258∗ and p.Met225Thr, and p.Gln258∗ and p.Arg272Cys). In all four patients, thelarche and menarche spontaneously occurred from 10 to 11 years of age and from 12 to 14 years of age, respectively. Subsequently, their menstruation cycles were regular at almost 1-month intervals. Patient 1 conceived naturally twice, and patient 2 conceived with the use of clomiphene citrate for ovulation induction. These two patients maintained the pregnancies without progesterone replacement therapy and successfully delivered children. Conclusion: Patients with nonclassic LCAH maintain ovarian function, which enables normal pubertal development and a successful pregnancy outcome without progesterone replacement therapy.

Original languageEnglish
Article numberjcem-201801752
Pages (from-to)1866-1870
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Issue number5
Publication statusPublished - 2019

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical


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