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Yang Timothy Du, Lynette Moore, Nicola K Poplawski and Sunita M C De Sousa

inheritance. Features unique to this family include dysmorphic facial features and proteinuria with renal biopsy findings. Case presentation A 26-year-old man born to non-consanguineous parents was referred to the Endocrinology Service for management

Open access

Jiman Kim, Eulsun Moon and Seungwon Kwon

inhibitors with ARBs offers no discernible benefit and is associated with an increase in adverse effects (3) . In this case study, we present a patient with established diabetes showing a dramatic decrease in proteinuria and increase in estimated glomerular

Open access

Natassia Rodrigo and Samantha Hocking

two prior pregnancies resulting in miscarriage. Gestational diabetes was diagnosed in the second trimester and managed by dietary modification alone, with no hypertension or proteinuria documented during the pregnancy. She had no other significant past

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Bronwen E Warner, Carol D Inward and Christine P Burren

Summary

This case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic–pituitary–gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis. There are a handful of reports of pubertal delay, infertility and cryptorchidism in Lowe syndrome. Biochemistry aged 72 h: testosterone 6.4 nmol/L, LH <0.5 IU/L and FSH <0.5 IU/L. Gonadotropin-releasing hormone stimulation test identified significantly raised baseline LH = 45.4 IU/L (contrasts with earlier undetectable LH), with a 20% increase on stimulation, while baseline FSH = 4.3 IU/L with no increase on stimulation. Day 14 HCG stimulation test produced an acceptable 50% increase in testosterone. The constellation of further abnormalities suggested Lowe syndrome: hypotonia, bilateral cataracts (surgical extraction and intraocular lens implantation) and renal tubular acidosis (microscopic haematuria, hypercalciuria, proteinuria, generalised aminoaciduria, hypophosphataemia and metabolic acidosis). DNA sequencing identified de novo hemizygous frameshift mutation OCRL c.2409_2410delCT in exon 22. Interpretation of initial and repeat GnRH and HCG testing indicates the likelihood of testicular failure. Partial testicular descent occurred but left orchidopexy was required. Improving long-term gonadal function in Lowe syndrome assumes increased importance for current cohorts as advances in renal replacement therapy have greatly improved life expectancy. Noting HPG axis abnormalities in Lowe syndrome in infancy can identify cases requiring increased surveillance of pubertal progress for earlier detection and management.

Learning points:

  • Clinical endocrine problems in Lowe syndrome has been reported, but has focused on abnormalities in adolescence and young adulthood: pubertal delay and infertility.
  • We present an infant with isolated LH elevation at baseline and on GnRH stimulation testing who also had bilateral impalpable testes.
  • Early testing of the HPG axis in patients with Lowe syndrome may help predict gonadal abnormalities from a younger age, which will enhance the overall case management into adolescence.
Open access

Masato Kotani, Naohisa Tamura, Tatsuhide Inoue and Issei Tanaka

was not observed. Investigation Table 1 shows his laboratory findings on admission. His fasting plasma glucose was 13.6 mmol/L and glycated hemoglobin (HbA1c) was 119.7 mmol/mol. The urinalysis showed glycosuria, proteinuria, microscopic

Open access

Yasuhiro Oda, Masayuki Yamanouchi, Hiroki Mizuno, Rikako Hiramatsu, Tatsuya Suwabe, Junichi Hoshino, Naoki Sawa, Kenichi Ohashi, Takeshi Fujii and Yoshifumi Ubara

most prominent feature. Case presentation A 66-year-old man with hypertension and a 30-year history of T2DM was referred to our hospital for evaluation of overt proteinuria. He was diagnosed with T2DM at the age of 36 years. Although insulin

Open access

Danielle R Bullock, Bradley S Miller, H Brent Clark and Patricia M Hobday

for a low total protein and albumin, low total serum IgG but normal IgG4, hypocomplementemia (low C3/C4) and mild hematuria and proteinuria. There are no values to suggest an underlying autoimmune disease or other IgG4-related disease. Hematuria and

Open access

Hiroaki Iwasaki

before his first visit to our department, the patient underwent a health check-up at a clinic and nephrotic-range proteinuria (spot protein ≥300 mg/dl) was noted; therefore, he was referred to the Department of Nephrology at our hospital, and a more

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S Hussain, S Keat and S V Gelding

on the basis of the immunology, cardiopulmonary involvement and proteinuria. She received three doses of intravenous methylprednisolone (500 mg) before being transferred to a tertiary rheumatology centre where she was treated with a combination of

Open access

Marlene Tarvainen, Satu Mäkelä, Jukka Mustonen and Pia Jaatinen

presentation, the plasma C-reactive protein (CRP) concentration was 39 mg/L and urinalysis revealed proteinuria (+++) and haematuria (++). Pyelonephritis was suspected, and she was admitted to a ward in the primary health care centre. Intravenous cefuroxime was