PMID- 38206738
OWN - NLM
STAT- MEDLINE
DCOM- 20240125
LR  - 20240125
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Print)
IS  - 0025-7974 (Linking)
VI  - 102
IP  - 52
DP  - 2023 Dec 29
TI  - Genetic diagnosis and clinical analysis of 17alpha-hydroxylase/17, 20-lyase 
      deficiency combined with type 2 diabetes mellitus: A case report.
PG  - e36727
LID - 10.1097/MD.0000000000036727 [doi]
LID - e36727
AB  - RATIONALE: 17alpha-Hydroxylase/17, 20-lyase deficiency (17OHD) is a recessively 
      inherited autosomal disease caused by CYP17A1 gene mutations. It is characterized 
      by failure to synthesize cortisol, adrenal androgens and gonadal steroids. 
      However, it is rare in clinic combining with type 2 diabetes mellitus (T2DM). 
      PATIENT CONCERNS: A 21-year-old woman was transferred to an endocrinology clinic 
      because of paroxysmal paralysis. In addition, she presented with hypertension, 
      primary amenorrhea and lack of pubertal development. Blood evaluation revealed 
      hypokalemia, and a low cortisol level with an increased adrenocorticotropic 
      hormone concentration. The renin activity and testosterone and estrogen levels 
      were suppressed, and the gonadotropin levels were high. CT scan showed bilateral 
      adrenal hyperplasia. Besides, this patient had hyperglycemia, hyperinsulinism and 
      negative diabetes type 1 related antibodies. A homozygous mutation c. 985 to 
      987delinsAA in exon 6 was found in the patient which caused the missense mutation 
      (p.Y329fs). DIAGNOSES: 17alpha-hydroxylase/17, 20-lyase deficiency combined with T2DM 
      was considered. INTERVENTIONS: The patient received dexamethasone, estradiol 
      valerate, metformin, amlodipine besylate and D3 calcium carbonate tablets. The 
      doses of dexamethasone was changed according to her blood potassium levels. 
      OUTCOMES: After treatment, the blood pressure, blood potassium and blood glucose 
      returned to normal range. Besides, she had restored her menstrual cycle. LESSONS: 
      For patients with hypertension, hypokalemia and lack of pubertal development, the 
      possibility of 17OHD should be considered. The subsequent treatment would be 
      challenging in patients with combined 17OHD and T2DM, considering the potential 
      contribution of glucocorticoids to diabetic balance and osteoporosis.
CI  - Copyright (c) 2023 the Author(s). Published by Wolters Kluwer Health, Inc.
FAU - Zhang, Yumin
AU  - Zhang Y
AUID- ORCID: 0000-0001-6700-2340
AD  - Department of Geriatric Endocrinology, Jiangsu Province Hospital and Nanjing 
      Medical University First Affiliated Hospital, Nanjing, Jiangsu Province, China.
AD  - Department of Endocrinology, Zhongda Hospital, Southeast University, Nanjing, 
      Jiangsu Province, China.
FAU - Yuan, Yuexing
AU  - Yuan Y
AD  - Department of Endocrinology, Zhongda Hospital, Southeast University, Nanjing, 
      Jiangsu Province, China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 7S5I7G3JQL (Dexamethasone)
RN  - WI4X0X7BPJ (Hydrocortisone)
RN  - EC 4.- (Lyases)
RN  - EC 1.- (Mixed Function Oxygenases)
RN  - RWP5GA015D (Potassium)
RN  - EC 1.14.14.19 (Steroid 17-alpha-Hydroxylase)
SB  - IM
MH  - Female
MH  - Humans
MH  - Young Adult
MH  - *Adrenal Hyperplasia, Congenital/complications/diagnosis/drug therapy
MH  - Dexamethasone
MH  - *Diabetes Mellitus, Type 2/complications/genetics
MH  - Hydrocortisone
MH  - *Hypertension
MH  - *Hypokalemia
MH  - *Lyases/genetics
MH  - Mixed Function Oxygenases
MH  - Mutation
MH  - Potassium
MH  - Steroid 17-alpha-Hydroxylase/genetics
PMC - PMC10754554
COIS- The authors have no conflicts of interest to disclose.
EDAT- 2024/01/11 18:42
MHDA- 2024/01/15 12:43
PMCR- 2023/12/29
CRDT- 2024/01/11 12:03
PHST- 2024/01/15 12:43 [medline]
PHST- 2024/01/11 18:42 [pubmed]
PHST- 2024/01/11 12:03 [entrez]
PHST- 2023/12/29 00:00 [pmc-release]
AID - 00005792-202312290-00057 [pii]
AID - 10.1097/MD.0000000000036727 [doi]
PST - ppublish
SO  - Medicine (Baltimore). 2023 Dec 29;102(52):e36727. doi: 
      10.1097/MD.0000000000036727.