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*For medical professionals only
Why do female patients have this virilization sign?
AuthorHebei Provincial People's Hospital Yu Xiaodong
Abnormal hormone regulation? Hormone screening right away? Today, let's understand this rare endocrine disease
through a case.
The patient's female, 23 years old, began to experience repeated hunger, palpitation, dizziness, sweating, and fatigue before meals 8 years ago, and improved after eating, and repeatedly visited the local clinic to check for random low blood glucose (the specific value is unknown), which was not paid attention to
。 4 hours before dinner without obvious reason to reappear the above symptoms, accompanied by transient loss of consciousness, lasting about 2-3 minutes, no incontinence, foaming at the mouth, slow response, convulsions, nausea and vomiting and other discomfort, emergency sent to the doctor to check random blood glucose 2.
89mmol/L
.
Physical examination: T 36.
4 °C, P 78 times/min, R 20 times/min, BP 126/69mmHg
.
Height 158cm, weight 48kg, waist circumference 72cm, hip circumference 92cm, body mass index 19.
2 kg/m2, clear consciousness, physical examination cooperation
.
Severe facial and limb hair, obvious beard, enlarged facial pores, increased acne, dark neck skin, unpalpable thyroid gland abnormalities, and no obvious positive signs
on cardiopulmonary and abdominal examination.
Based on the results of physical examination, carefully ask about past history and personal history: normal growth and development in the past, irregular menstruation and low amount after menarche at the age of 12; The parents are healthy, not close relatives are married, and there is no history of
related diseases in the family.
Complete oral glucose tolerance test (OGTT), serum antiglutamate decarboxylase antibody (GADA), anti-insulin antibody (IAA), Insulin growth factor-1 (IGF-1), six pituitary hormones, hormone detection, thyroid hormones, five bone markers, biochemical total, hematuria routine, rheumatic connective tissue disease immune indexes, electrocardiogram, cardiac ultrasound, thyroid ultrasound, urinary and gynecological ultrasound and other basic examinations
.
Related outcome returns: OGTT:
significantly elevated insulin, postponing secretion peak, hyperinsulinemia, abnormal
glucose metabolism.
After admission, blood glucose was regularly monitored 7 times a day, with blood glucose of 3.
5-4.
2 mmol/L before meals and 9.
5-12.
7 mmol/L
2 hours after meals.
Glycated hemoglobin was 9.
7%, and no abnormalities
were found in GADA, IAA, IGF-1.
Hormone test: testosterone 4.
25ng/mL ↑, estradiol, progesterone, pituitary hormone six, thyroid hormone no abnormalities
.
There were no abnormalities
in hematuria routine, five bone standards, biochemical total, rheumatic immunity-related indicators, electrocardiogram, etc.
Gynecologic ultrasound: bilateral polycystic ovarian changes
.
There were no abnormalities
in the results of Yu ultrasound.
▎Related discussion: The patient repeatedly had low blood sugar before meals, improved after eating, and recently had transient loss of consciousness before meals, considering hypoglycemia caused by hypoglycemia, and admitted to the hospital
with "hypoglycemia (cause to be investigated)".
After completing the basic endocrine examination, combined with OGTT, glycated hemoglobin and daily blood glucose monitoring results, the diagnosis of "diabetes"
can be clearly diagnosed.
The patient is a young woman, who has a young onset, and has not paid attention to it in the past, and after communicating with the patient, he sent out to complete the genetic test, and the results reported the possibility
of heterozygous mutation of INSR gene.
Combined with hyperinsulinemia, hirsutism, acanthosis nigricans, hyperandrogenemia, diabetes and mutant gene results, considering "type A insulin resistance syndrome", guiding diabetic diet after admission, giving metformin combined with pioglitazone to increase insulin sensitivity, finasteride inhibition androgen and other treatments, blood sugar tends to be discharged steadily
.
Regular review of patients outside the hospital and regular outpatient drug
adjustment.
What is Insulin Resistance Syndrome Type A? How is it treated?
The number of diabetic patients is increasing year by year, and with the continuous development of medical technology, it provides effective support
for the exploration of disease causes.
The patients mentioned in this article were admitted to the hospital with the cause of hypoglycemia, and the diagnosis of diabetes was clear after preliminary analysis of basic examination, in addition, its clinical manifestations were more specific (hyperinsulinemia, acanthosis nigricans, hyperandrogenemia), and after comprehensive consideration, it was further determined by genetic testing that it was a metabolic disorder caused
by insulin receptor (INSR) gene mutations.
Type A insulin resistance syndrome, also known as type A syndrome, ovarian hyperandrogenemia, insulin resistance acanthosis nigricans, is an autosomal dominant disease, its pathogenesis may involve insulin receptor degradation acceleration resulting in a decrease in the number of insulin receptors, insulin and peripheral insulin receptor binding ability significantly reduced, etc.
, due to the difference in gene mutations, clinical manifestations are also diverse, more common are insulin resistance, acanthosis nigricans, hyperandrogenemia, Polycystic ovary syndrome, etc
.
Due to the presence of hyperinsulinemia, fasting blood glucose is suppressed, resulting in normal, elevated or decreased fasting blood glucose, and postprandial blood glucose sensitivity is significantly reduced, causing postprandial hyperglycemia
.
In addition, activated insulin-like growth factor receptors can cause accelerated metabolic production of horn prion cells or fibroblasts, accelerated epidermal cell proliferation, and acanthosis nigricans
.
The treatment of type A insulin resistance is difficult, there is currently no radical method, to improve insulin resistance, relieve symptoms, the main treatment is the combination of insulin sensitizers (biguanides, thiazolidinediones) on the basis of diabetic diet and exercise therapy.
In addition, symptomatic treatment of other clinical manifestations emphasizes the need for out-of-hospital monitoring of blood glucose, and patients are advised to review regularly and closely monitor changes in their condition
.
In
patients presenting with one or combined symptoms of poor glycemic control, acanthosis, virilization, and irregular menstruation, it is necessary to improve hormone examination, and clinicians conduct preliminary analysis and diagnosis
of abnormal hormone results.
If the diagnosis cannot be confirmed, emphasize the need for genetic testing so as not to delay the patient's condition
.
References
[1] ZHAO Wenrui, YANG Guoqing.Diagnosis and treatment analysis of type A insulin resistance syndrome[J].
Journal of Practical Medicine,2013,29(24):4131-4132.
) [2] LIANG Li,LIU He.
Type A insulin resistance syndrome and its clinical management[J].
Journal of Practical Diabetes,2014,10(04):8-9 [3] WEI Fanxiang, HUANG Yajing, LIU Yuzhao, SUN Shengnan, WANG Xiwen, XU Lili, WANG Yangang, DONG Bingzi.
Family reports of type A insulin resistance syndrome[J].
Chinese Journal of Diabetes,2022,14(07):720-723.
)
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