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Open access

Daphne Yau, Maria Salomon-Estebanez, Amish Chinoy, John Grainger, Ross J Craigie, Raja Padidela, Mars Skae, Mark J Dunne, Philip G Murray and Indraneel Banerjee

Summary

Congenital hyperinsulinism (CHI) is an important cause of severe hypoglycaemia in infancy. To correct hypoglycaemia, high concentrations of dextrose are often required through a central venous catheter (CVC) with consequent risk of thrombosis. We describe a series of six cases of CHI due to varying aetiologies from our centre requiring CVC for the management of hypoglycaemia, who developed thrombosis in association with CVC. We subsequently analysed the incidence and risk factors for CVC-associated thrombosis, as well as the outcomes of enoxaparin prophylaxis. The six cases occurred over a 3-year period; we identified an additional 27 patients with CHI who required CVC insertion during this period (n = 33 total), and a separate cohort of patients with CHI and CVC who received enoxaparin prophylaxis (n = 7). The incidence of CVC-associated thrombosis was 18% (6/33) over the 3 years, a rate of 4.2 thromboses/1000 CVC days. There was no difference in the frequency of genetic mutations or focal CHI in those that developed thromboses. However, compound heterozygous/homozygous potassium ATP channel mutations correlated with thrombosis (R 2 = 0.40, P = 0.001). No difference was observed in CVC duration, high concentration dextrose or glucagon infused through the CVC. In patients receiving enoxaparin prophylaxis, none developed thrombosis or bleeding complications. The characteristics of these patients did not differ significantly from those with thrombosis not on prophylaxis. We therefore conclude that CVC-associated thrombosis can occur in a significant proportion (18%) of patients with CHI, particularly in severe CHI, for which anticoagulant prophylaxis may be indicated.

Learning points:

  • CVC insertion is one of the most significant risk factors for thrombosis in the paediatric population.
  • Risk factors for CVC-associated thrombosis include increased duration of CVC placement, malpositioning and infusion of blood products.
  • To our knowledge, this is the first study to evaluate CVC-associated thrombosis in patients with congenital hyperinsulinism (CHI).
  • The incidence of CVC-associated thrombosis development is significant (18%) in CHI patients and higher compared to other neonates with CVC. CHI severity may be a risk factor for thrombosis development.
  • Although effective prophylaxis for CVC-associated thrombosis in infancy is yet to be established, our preliminary experience suggests the safety and efficacy of enoxoaparin prophylaxis in this population and requires on-going evaluation.
Open access

Khaled Aljenaee, Sulaiman Ali, Seong Keat Cheah, Owen MacEneaney, Niall Mulligan, Neil Hickey, Tommy Kyaw Tun, Seamus Sreenan and John H McDermott

Markedly elevated androgen levels can lead to clinical virilization in females. Clinical features of virilization in a female patient, in association with biochemical hyperandrogenism, should prompt a search for an androgen-producing tumor, especially of ovarian or adrenal origin. We herein report the case of a 60-year-old woman of Pakistani origin who presented with the incidental finding of male pattern baldness and hirsutism. Her serum testosterone level was markedly elevated at 21 nmol/L (normal range: 0.4–1.7 nmol/L), while her DHEAS level was normal, indicating a likely ovarian source of her elevated testosterone. Subsequently, a CT abdomen-pelvis was performed, which revealed a bulky right ovary, confirmed on MRI of the pelvis as an enlarged right ovary, measuring 2.9 × 2.2 cm transaxially. A laparoscopic bilateral salpingo-oophorectomy was performed, and histopathological examination and immunohistochemistry confirmed the diagnosis of a Leydig cell tumor, a rare tumor accounting for 0.1% of ovarian tumors. Surgical resection led to normalization of testosterone levels.

Learning points:

  • Hirsutism in postmenopausal women should trigger suspicion of androgen-secreting tumor
  • Extremely elevated testosterone level plus normal DHEAS level point toward ovarian source
  • Leydig cell tumor is extremely rare cause of hyperandrogenicity
Open access

Gautam Das, Vinay S Eligar, Jyothish Govindan and D Aled Rees

Summary

Background: Hyperandrogenic states in pregnancy are rare but arise most commonly due to new-onset ovarian pathology in pregnancy. We describe the case of a young woman who presented in the latter half of her pregnancy with features of hyperandrogenism. We review the biochemical and imaging findings and discuss the differential diagnosis.

Case presentation: A 26-year-old woman presented in the later part of her pregnancy with widespread hirsutism. Biochemical testing confirmed hyperandrogenism (testosterone, 13.7 nmol/l and second-trimester pregnancy range, 0.9–4.9 nmol/l), although she had no history of menstrual disturbance, hirsutism or acne prior to conception. Radiological evaluation (ultrasound and magnetic resonance imaging) revealed multiple cystic lesions in both ovaries, leading to a presumptive diagnosis of hyperreactio luteinalis (HL). The implications of maternal hyperandrogenism on foetal virilisation were considered and the patient was counselled appropriately. She delivered a healthy baby boy uneventfully. Androgen levels, hirsutism and acne normalised within a few weeks of delivery.

Conclusion: HL can occur at any stage of pregnancy and is an important differential diagnosis in pregnant patients with features of androgen excess. Most cases regress spontaneously after delivery and major interventions are usually not needed.

Learning points

  • Hyperandrogenism in pregnancy is rare.
  • Clinical features are similar to the non-pregnant state in the mother but virilisation in the foetus can have profound consequences.
  • HL and pregnancy luteoma are the most common ovarian pathologies leading to hyperandrogenism in pregnancy.
  • Spontaneous regression occurs in the post-partum period in the vast majority of cases and surgery is only required for local complications.

Open access

N Amin, N S Alvi, J H Barth, H P Field, E Finlay, K Tyerman, S Frazer, G Savill, N P Wright, T Makaya and T Mushtaq

Summary

Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made. Type 1 PHA can be further classified into i) renal type 1 (autosomal dominant (AD)) and ii) multiple target organ defect/systemic type 1 (autosomal recessive (AR)). The aim of this case series was to characterise the mode of presentation, management and short-term clinical outcomes of patients with PHA type 1. Case notes of newly diagnosed infants presenting with PHA type 1 were reviewed over a 5-year time period. Seven patients were diagnosed with PHA type 1. Initial presentation ranged from 4 to 28 days of age. Six had weight loss as a presenting feature. All subjects had hyperkalaemia, hyponatraemia, with elevated renin and aldosterone levels. Five patients have renal PHA type 1 and two patients have systemic PHA type, of whom one has had genetic testing to confirm the AR gene mutation on the SCNN1A gene. Renal PHA type 1 responds well to salt supplementation, whereas management of patients with systemic PHA type 1 proves more difficult as they are likely to get frequent episodes of electrolyte imbalance requiring urgent correction.

Learning points

  • Patients with type 1 PHA are likely to present in the neonatal period with hyponatraemia, hyperkalaemia and metabolic acidosis and can be diagnosed by the significantly elevated plasma renin activity and aldosterone levels.
  • The differential diagnosis of type 1 PHA includes adrenal disorders such as adrenal hypoplasia and congenital adrenal hyperplasia; thus, adrenal function including cortisol levels, 17-hydroxyprogesterone and a urinary steroid profile are required. Secondary (transient) causes of PHA may be due to urinary tract infections or renal anomalies; thus, urine culture and renal ultrasound scan are required respectively.
  • A differentiation between renal and systemic PHA type 1 may be made based on sodium requirements, ease of management of electrolyte imbalance, sweat test results and genetic testing.
  • Management of renal PHA type 1 is with sodium supplementation, and requirements often decrease with age.
  • Systemic PHA type 1 requires aggressive and intensive fluid and electrolyte management. Securing an enteral feeding route and i.v. access are essential to facilitate ongoing therapy.
  • In this area of the UK, the incidence of AD PHA and AR PHA was calculated to be 1:66 000 and 1:166 000 respectively.