The older female relatives of family 1 who harbor this variant experienced premature menopause.

To our knowledge, this is the first report where the c.251G>A (p.Arg84His) variant is associated with the presence of Müllerian remnants in 46,XY subjects and primary ovarian insufficiency in 46,XX individuals. The segregation of this variant with clinical manifestations provides further evidence for considering it as pathogenic.

A (p.Arg84His) variant is associated with the presence of Müllerian remnants in 46,XY subjects and primary ovarian insufficiency in 46,XX individuals. The segregation of this variant with clinical manifestations provides further evidence for considering it as pathogenic.

Nelson syndrome (NS) is a rare clinical disorder that can occur after total bilateral adrenalectomy (TBA), performed as a treatment for Cushing disease. NS is defined as the accelerated growth of an adrenocorticotropic hormone-producing pituitary adenoma. Our objective is to describe a case of NS and discuss it based on existing knowledge of this syndrome.

We describe the case of a woman diagnosed with NS at our facility in the Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran and review published cases of NS.

The patient, a 35-year-old woman with Cushing disease, had been diagnosed in 2006 at the endocrinology department in the Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran. In 2007, a laparoscopic TBA was performed, and 2 years later, she presented with hyperpigmentation and adrenocorticotropic hormone levels of up to 11 846 pg/mL. NS was suspected, and as magnetic resonance imaging showed macroadenoma, transsphenoidal surgery was performed. The patient remained asymptomatic until 2012, when she presented with a right hemicranial headache, photophobia, and phonophobia. A fresh magnetic resonance imaging was performed, which documented tumor growth. She was referred to the Instituto Nacional de Neurologia y Neurocirugia, where she underwent surgery.

NS develops as a complication of TBA, which is used as a treatment of Cushing disease. The main treatment is surgery and radiotherapy.

NS develops as a complication of TBA, which is used as a treatment of Cushing disease. The main treatment is surgery and radiotherapy.

To describe a case of maturity-onset diabetes of the young (MODY) to highlight the importance of a correct diabetes diagnosis.

We describe a Mexican family misdiagnosed with T1D and T2D.

A 36-year-old woman with diabetes and adverse outcomes during 2 pregnancies had been diagnosed with T2D 10 years ago. Genetic testing was performed due to clinical and family history, which showed a pathogenic heterozygous variant c.544G>T (p.Val182Leu) in the

gene. This mutation was also confirmed in most of the family members who had been diagnosed with diabetes.

This case highlights the need for a correct diabetes classification. Reassessment of diabetes etiology is justified, especially in individuals with unclear clinical presentation or when family history is suggestive.

This case highlights the need for a correct diabetes classification. Reassessment of diabetes etiology is justified, especially in individuals with unclear clinical presentation or when family history is suggestive.

To raise awareness of the clinical presentation of a testosterone-secreting steroid cell tumor, not otherwise specified, causing pulmonary embolus (PE) and erythrocytosis.

Report of the first known case of ovarian steroid cell tumor not otherwise specified leading to PE.

A 67-year-old Caucasian postmenopausal woman was referred for endocrine evaluation of a 1-year history of hirsutism, weight gain, and elevated total testosterone level of 672 ng/dL (normal, <75 ng/dL). She reported increased hair growth on her chin for the past year, unintentional weight gain, and low energy levels. Laboratory data from the initial visit included a total testosterone level of 672 ng/dL (normal, <75 ng/dL), hemoglobin level of 18.0 g/dL (normal, 11.7-15 g/dL), and hematocrit level of 50.4% (normal, 35%-45%). Four months after initial presentation, the patient developed acute-onset chest pain and shortness of breath and was diagnosed with a right PE on computed tomography chest angiogram. Evaluation with imaging for an ovarian mass revealed a negative workup including computed tomography abdomen pelvis, transvaginal ultrasound, and pelvic magnetic resonance imaging. Despite negative findings during imaging, because of the markedly elevated testosterone levels, this presentation was thought to correspond to a testosterone-secreting ovarian tumor. The patient was referred for bilateral oophorectomy. Pathology of the right ovary revealed a 2-cm steroid cell tumor, not otherwise specified.

PE and erythrocytosis can be presentations of a testosterone-secreting ovarian tumor, not otherwise specified. This case is the first known presentation of an ovarian steroid cell tumor, not otherwise specified, leading to PE and erythrocytosis.

PE and erythrocytosis can be presentations of a testosterone-secreting ovarian tumor, not otherwise specified. This case is the first known presentation of an ovarian steroid cell tumor, not otherwise specified, leading to PE and erythrocytosis.

To report the first case of diabetic ketoacidosis (DKA) and its management in a patient with diet-controlled prediabetes and metastatic breast cancer treated with alpelisib, a PI3K (phosphatidylinosiotol-3-kinase) inhibitor.

Literature on the topic is reviewed. The case is that of a 66-year-old female with diet-controlled prediabetes and metastatic breast carcinoma who had initiated alpelisib 2 weeks prior to being admitted for diabetic ketoacidosis.

Admission laboratory examination revealed a blood sugar of 1137 mg/dL, an anion gap of 25, large ketones in urine, and positive acetone in serum. The HbA1c level was 9.4% (79 mmol/mol) on admission, which had been 6.3% (45 mmol/mol) seven months earlier. She was discharged on subcutaneous insulin and instructed to discontinue alpelisib. WS6 Alpelisib was restarted 2 days later, which exacerbated her hyperglycemia within 24 hours. In the following months, her hyperglycemia was successfully managed with insulin and a SGLT 2 inhibitor. Unfortunately, her breast cancer progressed, ultimately leading to discontinuation of alpelisib.