Giant Ovarian Cyst in a Woman with Congenital Adrenal Hyperplasia Disappeared after Adjustment of Glucocorticoid Therapy

Wakakuri, Hitomi; Kahara, Toshio; Shimizu, Akiko; Kanamoto, Ayako; Ishikura, Kazuhide; Usuda, Rika

doi:10.2169/internalmedicine.49.3054

Cited by 4 publications

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References 4 publications

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“…Wakakuri et al (14) reported a giant ovarian cyst measuring 8.5x6 cm in a poorly controlled simple virilizing 21-OHD adult that regressed with glucocorticoid replacement. Shankar et al (4) reported bilateral ovarian cysts in a 8-days-old baby with salt-losing 21-OHD with a dominant cyst measuring 7x5 cm.…”

Section: Discussionmentioning

confidence: 99%

A Giant Ovarian Cyst in a Neonate with Classical 21-Hydroxylase Deficiency with Very High Testosterone Levels Demonstrating a High-Dose Hook Effect

Güran¹,

Yeşil²,

Güran³

et al. 2012

Jcrpe

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Congenital adrenal hyperplasia (CAH) is a group of disorders affecting the adrenal steroid synthesis. The most common form, 21-hydroxylase deficiency (21-OHD), leads to decreased production of cortisol and aldosterone with increased androgen secretion. In classic CAH, glucocorticoid treatment can be life-saving and serves to bring the symptoms under control. However, the treatment challenge is to effectively control the excess androgen effect by using the lowest possible glucocorticoid dose. Previous studies suggested a relationship between ovarian cyst formation and adrenal androgen excess, but neonatal large ovarian cysts have been very rarely reported in newborns with CAH. Here, we present the unique case of a neonate with classical 21-OHD who underwent surgery for a giant (10x8x7 cm) unilateral solitary ovarian follicular cyst on the 2nd postnatal day. Hormonal evaluation of the patient revealed high-dose hook effect for serum testosterone levels for the first time by a two-site immunoradiometric assay. Possible mechanisms by which androgen excess may cause ovarian cyst formation are discussed. Conflict of interest:None declared.

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Section: Discussionmentioning

confidence: 99%

A Giant Ovarian Cyst in a Neonate with Classical 21-Hydroxylase Deficiency with Very High Testosterone Levels Demonstrating a High-Dose Hook Effect

Güran¹,

Yeşil²,

Güran³

et al. 2012

Jcrpe

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Evaluation and Treatment Results of Ovarian Cysts in Childhood and Adolescence: A Multicenter, Retrospective Study of 100 Patients

Aydın

Saka

Baş

et al. 2017

Journal of Pediatric and Adolescent Gynecology

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Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome

Lee¹,

Chan²,

Fok³

et al. 2013

Hong Kong Med J

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A 66-year-old Vietnam-born Chinese man was admitted to our department because of progressive abdominal swelling and bilateral ankle oedema for 1 year. On physical examination, he was noted to have a short stature with body height of 1.37 m. He had a normal complexion and no other dysmorphic features. His blood pressure was 99/55 mm Hg but with no postural drop. Abdominal examination revealed a distended abdomen without organomegaly or shifting dullness. Examination of his external genitalia revealed a micropenis with perineoscrotal hypospadias (Prader stage IV); no testes could be detected in/along both the scrotum and inguinal canals. However, he had male pattern of escutcheon, a beard, and no gynaecomastia. On further questioning, he reluctantly disclosed a history of urinary leakage since childhood and arrest of growth after puberty at the age of 10 years. Computed tomography of the abdomen revealed a 13.6 x 26.5 x 23.7 cm non-enhancing septated cystic mass arising from the retrovesical region.Initial investigations revealed normal serum electrolytes and acid-base status. His renal function was impaired (serum creatinine of 172; reference range [RR], 62-126 μmol/L), and he had hypoalbuminaemia (serum albumin of 24; RR, 32-46 g/L). Baseline serum sex hormone profiles were as follows: testosterone at 9.2 (RR for male, 9.0-34.7) nmol/L, oestradiol at 176 (RR for male, 26-156) pmol/L, progesterone at 22.8 (RR for male, 0.7-4.3) nmol/L, luteinising hormone at 1.9 (RR, 1.7-8.6) IU/L, follicle-stimulating hormone at 3.0 (RR, 1.5-12.4) IU/L, androstenedione at 31.5 (RR, 0.8-3.1) nmol/L, and dehydroepiandrosterone sulfate at 11.6 (RR, 2.2-15.2) nmol/L. Tumour markers including beta-human chorionic gonadotropin, alpha-fetoprotein, carcinoembryonic antigen, and CA-125 were normal. A mosaic Turner karyotype with 10% monosomy X, 4% trisomy X, and 86% normal female karyotype was detected. The short synacthen test with 250 μg tetracosactrin was performed to unravel the possibility of congenital adrenal hyperplasia (CAH) with the following results: baseline adrenocorticotropic hormone (ACTH) at 50.2 (RR, <10.1) pmol/L; baseline and 60-minute post-stimulation serum cortisol at 224 and at 260 nmol/L, respectively (reference level, >550 nmol/L post-stimulation); and baseline and 60-minute post-stimulation 17-hydroxyprogesterone (17-OHP) at 70 and 554 nmol/L, respectively (reference level of classical CAH, >300 nmol/L). Urinary steroid profiling (USP) by gas chromatography-mass spectrometry (GC-MS) showed grossly elevated metabolites of 17-OHP (Fig 1), including pregnanetriol, 17-hydroxypregnenolone and 11-oxo-pregnanetriol, compatible with 21-hydroxylase deficiency (21-OHD). Mutational analysis of the CYP21A2 gene by multiplex ligation-dependent probe amplification and by polymerase chain reaction (PCR) followed by direct DNA sequencing showed deletion/ conversion of the promoter to exon 4 in one allele and a hemizygous p.Ile172Asn mutation in the other allele. Using PCR no SRY gene could be amplified in the peripheral leukocyt...

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Giant Ovarian Cyst in a Woman with Congenital Adrenal Hyperplasia Disappeared after Adjustment of Glucocorticoid Therapy

Cited by 4 publications

References 4 publications

A Giant Ovarian Cyst in a Neonate with Classical 21-Hydroxylase Deficiency with Very High Testosterone Levels Demonstrating a High-Dose Hook Effect

A Giant Ovarian Cyst in a Neonate with Classical 21-Hydroxylase Deficiency with Very High Testosterone Levels Demonstrating a High-Dose Hook Effect

Evaluation and Treatment Results of Ovarian Cysts in Childhood and Adolescence: A Multicenter, Retrospective Study of 100 Patients

Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome

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