AFJOG

African Journal of Obstetrics and Gynaecology | Volume 2 | Issue 2 | 2024 | 31 CASE REPORT African Journal of Obstetrics and Gynaecology | Volume 2 | Issue 2 | 2024 | Polycystic Ovary Syndrome: An update from the 2023 international guideline BACKGROUND Classic Congenital Adrenal Hyperplasia (CAH) is the commonest cause of ambiguous genitalia in genetic females (1) . CAH is an autosomal recessive disease. The global prevalence of CAH is approximately 1 in 15 000 people with more prevalence in certain ethnic groups such as Yupik Eskimos (2) . The commonest cause of virilising CAH is 21-hydroxylase deficiency (21OHD), responsible for over 90%of cases (1,3) . Less frequent causes include 11β-hydroxylase deficiency (11βHD) accounting for 5% of cases; and rarely 3β-hydroxysteroid dehydrogenase type 2 (3βHSD2) deficiency and P450 oxidoreductase deficiency (4) . With these enzymatic deficits, the degree of residual enzyme activity and resultant hormonal disturbance, determines the eventual phenotype. Individuals with the classic salt wasting form of CAH secondary to 21OHD have almost no residual enzyme activity, those with simple virilising CAH have approximately 1% to 2% residual enzyme activity, while those with non-classic CAH have approximately 20% to 50% residual enzyme activity (3) . Other differential diagnoses for ambiguous genitalia in 46,XX neonates include gestational hyperandrogenism (luteoma of pregnancy, theca lutein cysts, aromatase deficiency), maternal androgen ingestion during gestation, and 46,XX ovotesticular disorder of sex development (DSD) (1,3) . The diagnosis of CAH is based on varying degrees of virilisation; salt wasting; along with elevated androgens and precursors of cortisol synthesis. The mainstay of treatment is glucocorticoid therapy with or without mineralocorticoid supplementation (1,3) . This case report discusses a conundrum instigated by results discordant with the clinical manifestation, and how the definitive diagnosis was eventually made. We also highlight the importance of ensuring that patients with CAH are conversant with their condition, a clear long-term management plan, and are equipped with the relevant documentation along with some form of medical identification highlighting their adrenal insufficiency. CASEREPORT We describe an 18 year old African female immigrant to South Africa who presented with primary amenorrhoea and absent breast development. She was born in a midwife-led obstetric unit in her home country with ambiguous genitalia. Her parents reported that she was transferred to a tertiary hospital via ambulance on the same day. Some blood tests and scan were performed soon after birth, but her parents could neither recall the investigations previously conducted or their results, nor did they have any supporting documentation. She was reviewed at 6 months of age and annually thereafter at the tertiary-level facility. She was raised as a girl and reportedly had genital reconstructive surgery (clitoroplasty, labioplasty, vaginoplasty) performed at 6 years of age. This was followed by complete recovery after 1 month of hospital admission. At the time, the family was advised that the doctors could not guarantee the presence of the ovaries and that future fertility would likely be compromised. Thereafter, the family did not have any further medical reviews. She did not experience any significant episodes of illness in infancy, childhood or adolescence requiring admission, nor did she require medical therapy. Pubic and axillary hair appeared early at the age of 6 years and she developed chin hair by the age of 18 years. As she progressed through adolescence, she developed a progressively more masculine phenotype. She developed temporal and occipital balding necessitating the use of, on occasion, a wig. The clitoris, which was already enlarged, gradually increased in size. She had no deepening of the voice or acne. She suffered emotional distress from being branded a man by her peers. She attained poor grades compared to her siblings and did not proceed beyond secondary school education. She viewed herself as bisexual, experiencing sexual feelings for both men and women. However she only attempted heterosexual intercourse once, with unsuccessful attempts at penetration. She was the second child in a family of 4 children (1 boy R Majangara, M Patel, M Matjila Department of Obstetrics and Gynaecology, Reproductive Medicine Unit, Groote Schuur Hospital, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa CORRESPONDENCE: R Majangara| Email: Email :majangararumbie@gmail.com Congenital Adrenal Hyperplasia in Africa- Potential 17α-hydroxyprogesterone Radio- immunoassay interference? A case report ABSTRACT Background: Congenital adrenal hyperplasia is the commonest cause of ambiguous genitalia in genetic females and is characterised by elevated precursors of cortisol synthesis. Liquid chromatography-tandem mass spectrometry is the gold standard for measurement of biosynthetic steroids. However due to the ease of use and lower cost, many centres still utilize immunoassays, yet, immunoassays remain prone to test interferences. Case Presentation: We report a case of Congenital Adrenal Hyperplasia secondary to 21-hydroxylase deficiency in a female presenting with primary amenorrhoea and absent breast development associated with ambiguous genitalia and premature adrenarche. A deceptively low 17α-hydroxyprogesterone level on initial screening (utilizing RIA) confused the diagnosis. A repeat 17α-hydroxyprogesterone on diluted samples and an Adrenocorticotrophic Hormone Stimulation Test confirmed the diagnosis. Upon treatment with hydrocortisone replacement therapy and premarin, she attained thelarche and menarche, and her biochemical profile improved. Conclusion: Clinicians should be aware of potential interferences with steroid immunoassays and re-consider the merit of clinical judgement for diagnosis and treatment decisions, in atypical scenarios. Keywords: Congenital adrenal hyperplasia, immunoassay, diagnostic challenge, 17α-hydroxyprogesterone