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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Although acne is a disease predominant in adolescence, it is being increasingly observed in adult life, including the menopausal period. The etiology of menopausal acne is multifactorial, with hormonal imbalance being the major culprit. There is a relative increase of androgens in the menopausal female that leads to clinical hyperandrogenism manifesting as acne, hirsutism and androgenetic alopecia. Other endocrine disorders including thyroid abnormalities, hyperprolactinemia and insulin resistance also play a role. Genetics, stress, dietary changes, lack of sleep and exercise and other lifestyle changes are implicated as trigger factors. Most menopausal women with isolated few acne lesions have normoandrogenic serum levels and do not require extensive investigations. However, baseline investigations including total testosterone are useful. Patients must also be evaluated for associated comorbidities such as obesity, diabetes, hypertension and dyslipidemia. A detailed history can help to exclude polycystic ovarian syndrome, late-onset congenital adrenal hyperplasia or medications as a cause of acne. The evaluation of menopausal acne and the approach to treatment depend on the severity of acne and associated features. In patients with mild acne without virilization, prolonged topical therapy is the mainstay of treatment. Though combined oral contraceptives are effective, they are relatively contraindicated in the postmenopausal period. Spironolactone is the first choice of therapy in the subset of patients that require oral anti-androgen therapy. Procedural treatment can be useful as it can also help in the treatment of associated acne scars and concomitant skin aging. It is also important to focus on lifestyle changes such as reducing stress, controlling obesity, having a healthy diet, exercise and proper skin care routine to reduce acne. The focus of this article is on the clinical presentation and management challenges of menopausal acne, which represents a special subtype of acne.
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PMID:Menopausal Acne - Challenges And Solutions. 3175 13

We describe a case of a 24-year-old overweight woman who presented with hirsutism, secondary amenorrhea, clitoromegaly, and symptoms of diabetes mellitus (DM). While a diagnosis of polycystic ovary syndrome (PCOS) with its associated metabolic disturbances was initially considered, serum total testosterone, androstenedione, and 17-hydroxyprogesterone (17-OHP) measured by liquid chromatography tandem mass spectrometry (LC-MS/MS) were significantly increased. As 17-OHP did not increase upon ACTH (Synacthen) stimulation and the urinary steroid profile (USP) was compatible with an ovarian source of 17-OHP excess rather than adrenal, non classical congenital adrenal hyperplasia (NCCAH) was unlikely and an androgen-secreting tumor was suspected. Transabdominal ultrasound revealed the presence of an enlarged right ovary with a polycystic ovary morphology and no discrete mass. Transvaginal ultrasound and [18F]- fluorodeoxyglucose positron emission tomography-computed tomography (FDG PET-CT) enabled the localization of a right ovarian tumor. Laparoscopic right salpingo-oophorectomy was performed and a histological diagnosis of steroid cell tumor, not otherwise specified (SCT-NOS) was made. Hyperandrogenism and menstrual disturbances resolved postoperatively. A literature review revealed that 17-OHP-secreting SCT-NOS may uncommonly show positive responses to ACTH stimulation similar to 21-hydroxylase deficiency. Alternatively, USP might be useful in localizing the source of 17-OHP to the ovaries. Its diagnostic performance should be evaluated in further studies.
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PMID:Hyperandrogenism, Elevated 17-Hydroxyprogesterone and Its Urinary Metabolites in a Young Woman with Ovarian Steroid Cell Tumor, Not Otherwise Specified: Case Report and Review of the Literature. 3177 87

Congenital Adrenal Hyperplasia is a group of genetic autosomal recessive disorders that affects adrenal steroidogenesis in the adrenal cortex. One of the most common defects associated with Congenital Adrenal Hyperplasia is the deficiency of 21-hydroxylase enzyme, responsible for the conversion of 17-hydroxyprogesterone to 11-deoxycortisol and progesterone to deoxycorticosterone. The impairment of cortisol and aldosterone production is directly related to the clinical form of the disease that ranges from classic or severe to non-classic or mild late onset. The deficiency of 21-hydroxylase enzyme results from pathogenic variants on CYP21A2 gene that, in the majority of the cases, compromise enzymatic activity and are strongly correlated with the clinical severity of the disease. Due to the exceptionally high homology and proximity between the gene and the pseudogene, more than 90% of pathogenic variants result from intergenic recombination. Around 75% are deleterious variants transferred from the pseudogene by gene conversion, during mitosis. About 20% are due to unequal crossing over during meiosis and lead to duplications or deletions on CYP21A2 gene. Molecular genetic analysis of CYP21A2 variants is of major importance for confirmation of clinical diagnosis, predicting prognosis and for an appropriate genetic counselling. In this review we will present an update on the genetic analysis of CYP21A2 gene variants in CAH patients performed in our department.
Exp Clin Endocrinol Diabetes 2020 Mar 04
PMID:Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene. 3213 Nov 14

Congenital adrenal hyperplasia (CAH) occurring in twins is extremely rare. Most of these cases are of classic salt-wasting CAH due to 21-hydroxylase enzyme deficiency. Only two cases of the simple virilising form of CAH have been reported previously, with variable clinical presentations. In this report, we describe a pair of monozygotic twins with classic simple virilising form of CAH, who had a simultaneous onset and similar severity of clinical manifestations. Genetic analysis of the CYP21A2 gene in twin 1 showed the pres-ence of two heterozygous pathogenic sequence variants, c.518T>A and c.955C>T in the CYP21A2 gene, consistent with a diagnosis of CAH due to 21-hydroxylase deficiency. We also present a brief review of previous cases of twins with CAH.
Pediatr Endocrinol Diabetes Metab 2020
PMID:Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases. 3227 26


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