This is a 25-year-old female patient from Ukraine, diagnosed with diabetes secondary to pancreatic agenesis 5 years ago, admitted to our department from the emergency department for non-acidotic hyperglycaemic ketotic decompensation. Since diagnosis, the patient has had acceptable metabolic control with HbA1c below 7% with dietary treatment and exercise.
Her family history includes a diabetic great-grandfather and healthy parents and siblings.
In the anamnesis, on admission the patient reported poor metabolic control for the last two months, coinciding with the onset of frequent episodes of urinary tract infections, and recently aggravated by vulvovaginal candidiasis and paronychia on the fingers, with symptoms of polydipsia, intense polyuria and weight loss of 6.4 kg during this period.
Physical examination revealed: height 167 cm; weight 38.6 kg; BMI 13.4 kg/m2; BP 120/80 mmHg; HR 116 bpm; saturation 97%. Mandible in lantern jaw. Thyroid grade 0. Normal AC and AP. Abdomen soft and depressible, non-painful, without masses or megaliths. MMII without oedema and preserved peripheral pulses. Vibratory sensitivity, with preserved monofilament and osteotendinous reflexes. Erythematous and pruritic lesions in the vulvar and perianal region suggestive of candidiasis. Paronychia on the fourth finger of the right hand. Extensive diabetic dermopathy on legs and arms.
Complementary tests: normal haemogram, ESR 35 mm/h, glucose 552 mg/dL, Cr 0.8 mg/mL, total cholesterol 205 mg/dL, LDL-C 125 mg/dL, HDL-C 58 mg/dL. Normal liver profile except for GOT 54 IU (7-32), GPT 63 IU (5-31) and GGT 59 (7-32). Albumin/creatinine ratio: 0.6µg/mg. Glucose urine 5567 mg/dL. Urine methylketone 50 mg/dL. HbA1c 16.2%. Basal C-peptide 166 pmol/L (298-2350). Anti-GAD 0.2 KU/L (0-0.9), anti-IA2 0.2 KU/L (0-1) and anti-insulin (IAA) 77.2 nU/mL (N<40). IgA anti-transglutaminase antibodies 0.82 KU/L (0-10). Anti-TG 149 (0-40) and anti-TPO 13.3 (0-35). TSH 3.1
Gynaecological examination: bicornuate uterus.
Fundus examination and normal retinography.
Abdominopelvic CT scan with contrast: dorsal agenesis of the pancreas.
Abdominal ECHO: multiple cortical cysts of less than 1 cm in the left kidney, diffuse throughout the left renal parenchyma with no evidence of dilatation of the pyelocaliceal system or other findings. Normal right kidney. Absence of pancreatic body and tail.
Culture of exudate from the panadizo grew Klebsiella oxytoca and vulvovaginal culture was positive for Candida albicans.
With the suspicion of MODY type diabetes, a genetic study was requested by semiquantitative fluorescent PCR, detecting heterozygous deletion of at least exons 1 to 8 of the HNF1 β gene, which is associated with type 5.
Treatment was started with insulin glargine and insulin aspart 1.3 U/kg. Fluconazole was administered orally 100 mg/day (10 days) and a vaginal vaginal ovule in a single dose of clotrimazole 400 mg, and the fungal lesions disappeared.
Subsequent check-ups showed HbA1c levels of less than 6% with a progressive decrease in insulin to 0.5 U/kg 6 months after admission. Eight months after admission, the diabetic dermopathy disappeared and 18 months after admission, the patient had regained her initial weight and insulin requirements were maintained at 0.5 U/kg. Renal function has remained within normal limits and microalbuminuria is negative. There was only a slight increase in transaminases.

