ACTA ENDOCRINOLOGICA (BUC)

COVID-19 primarily affects the respiratory system. What comes after the disease is now a greater concern for the scientific world. It is remarkable for causing endocrine organ involvement, particularly in the adrenal glands. However, its effect on the adrenal gland has not been fully elucidated. A case of primary adrenal insufficiency after COVID-19. A 31-year-old female patient who presented with complaints of weakness, anorexia, nausea, recent onset of vomiting, dizziness, and low blood pressure for two months was admitted to the outpatient Department of Endocrinology and Metabolism. After discharge, the patient had routine follow-ups, and here we present the information on the first and seventh month after discharge. The patient was diagnosed with primary adrenal insufficiency with cortisol <0.054 μg/dL and adrenocorticotropic hormone >1200 pg/mL in the laboratory. In the non-contrast computed tomography taken in the adrenal protocol, the stem and leaves of both adrenal glands are significantly thinned and appear atrophic, the right adrenal gland is hardly distinguished. Hydrocortisone was started. All complaints were resolved within a week, except hyperpigmentation, which was resolved six months later after treatment. Our study support adrenal gland involvement due to COVID-19, further research is needed to obtain data on damage mechanisms.

Background. Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and insulin-like growth factor-1 (IGF-1). Empty sella (ES) is an anatomical condition of sella turcica that is partially or completely filled with cerebrospinal fluid mainly due to intrasellar herniation of subarachnoid space. Here, we describe a patient who presented with clinical and biochemical features of acromegaly and who had an ES on pituitary magnetic resonance imaging (MRI). Case report. A 73-year-old male patient was consulted in our clinic because of the acromegalic phenotype while planning for colorectal adenocarcinoma surgery. The patient noticed gradual enlarging of his hands, feet and nose for 30 years, but never consulted to any clinician for this reason. Serum GH was 20.6 ng/mL (normal <3 ng/mL) and IGF-1 was 531 ng/mL (normal, 69–200 ng/ml). An oral glucose tolerance test showed no suppression of GH values. T1-weighted MRI revealed an ES. 18F-FDG PET/CT and Ga-DOTATADE PET/CT did not show any finding consistent with ectopic GH secretion. Growth hormone releasing hormone (GHRH) was within the normal range (<100mg/dL). He was treated with long-acting octreotide 20 mg per 28 days. At the 6th month of treatment, serum GH and IGF-1 levels were decreased to 5.45 ng/mL and 274 ng/mL, respectively. Conclusion. The mechanism underlying the association of acromegaly and ES remains unclear. Apoplexy on existing pituitary adenoma and then formation of necrosis can proceed to ES. Since our patient did not have a history of pituitary apoplexy and we could not find any reason for secondary ES, we considered primary ES.

Introduction. Wolfram Syndrome (WS) is a rare autosomal recessively inherited disorder characterized by juvenile-onset diabetes mellitus (DM), diabetes insipidus, optic atrophy (OA), hearing loss and neurodegeneration. This report describes three cases with WS. Case report. The first case was diagnosed with DM and OA at the age of 6 and 11 years, respectively. Second patient was the sibling of the first patient, also had DM and was investigated for WS after his brothers’ diagnosis. The third patient was diagnosed with DM at the age of 5 years and developed bilateral sensorineural hearing loss and OA at the ages of 7 and 12 years, respectively. Preliminary diagnoses of all patients were confirmed by Sanger sequencing of the WFS1 gene. Two previously reported and a novel mutation were detected. While our first patient was diagnosed with attention deficit hyperactivity disorder previously described in WS patients, obsessive compulsive disorder observed in case 2, was not previously reported in WS to the best of our knowledge. Puberty delay was detected in our first patient and was diagnosed as constitutional delay of puberty and growth. Conclusion. Early diagnosis of WS can lead to early detection of associated pathologies and to decrease complications, morbidity and mortality.

Niemann-Pick disease (NPD), is a rare autosomal recessive lysosomal storage disorder. Niemann-Pick A and B are caused by homozygous or compound heterozygous mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene on chromosome 11p15. Type B is panethnic, although its frequency is increased in Turkish, Arabic and North African populations. Clinical features vary significantly among patients. It is a rare condition and information about its management an outcome during pregnancy and labor is limited. Both maternal mortality and morbidity due to severe postpartum hemorrhage has been reported. We represent a case of successful pregnancy outcome in patient with NPD type B. Type of mutations in SMPD 1 gene and severity of disease before pregnancy can predict the prognosis of pregnancy.

Increased frequency of adrenal tumours and adrenal myelolipoma has been reported in patients with 21-hydroxylase deficiency (21-OHD). Adrenal myelolipoma is an uncommon, benign, biochemically non-functioning tumor and occasionally reported in association with endocrine disorders. Diagnosis of myelolipomas is based on imaging with ultrasonography, CT or MRI being effective in more than 90% of cases. We present a 34-year-old man with massive bilateral adrenal masses which was detected on computed tomography and was diagnosed as 21-hydroxylase deficiency (21-OHD) based on biochemical findings. Computerized tomography of the abdomen demonstrated bilaterally very low-density adrenal masses (16x28 mm on the right side and 91x88 and 33x30 mm on the left side) consistent with adrenal myelolipomas. Since myelolipomas are considered as benign tumors, he was not operated. Tumor size did not increase during two year follow-up periods. It is recommended to the physicians to be aware of increased frequency of benign adrenal tumors that occur frequently in patients with 21-OHD. Untreated CAH with prolonged excessive ACTH stimulation might contribute to the growth of adrenal masses. CAH should always be ruled out in incidentally detected adrenal masses to avoid unnecessary surgical procedures.

Introduction. Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that typically presents in childhood and involves multiple organ systems. Turner syndrome (TS) is a chromosomal condition resulting from complete or partial loss of one X chromosome. Both disorders can independently cause short stature and pubertal delay. Case Report. We present a 9-year-old girl diagnosed with NF1 at age 6, based on widespread café-aulait macules and a positive family history. She was referred to our pediatric endocrinology clinic for evaluation of severe short stature. Physical examination revealed TS stigmata, including height SDS: -4.07, cubitus valgus, webbed neck, low posterior hairline, and widely spaced nipples. Karyotype analysis confirmed mosaic TS: 45,X[12]/46,X,del(X) (p11.2)[18]. Cranial magnetic resonance imaging revealed hamartomatous lesions, an empty sella, and an optic pathway glioma, for which she had received chemotherapy. Laboratory findings were consistent with hypergonadotropic hypogonadism. Estrogen replacement therapy was initiated; however, recombinant human growth hormone treatment was declined by the family after counseling. Conclusions. This co-occurrence is exceedingly rare, with only a few pediatric cases having been reported in the literature. This dual diagnosis poses diagnostic and therapeutic challenges and necessitates a personalized approach to growth assessment, pubertal induction, and long-term tumor surveillance in pediatric endocrine care.

Sustained exposure to high serum insulin-like growth factor (IGF-1) levels is likely to play a role in the development of the thyroid tumor in acromegaly; however, there is no report that indicate a promoting effect on the secretion of hormones by the thyroid tumor. We report a case of acromegaly in a seventy-one-year-old female with primary subclinical hyperthyroidism. Autoantibodies including\r\nanti-thyroglobulin antibody, anti-thyroid peroxidase antibody and thyroid stimulating hormone (TSH) receptor antibody were all negative. Ultrasonography of the thyroid\r\ndemonstrated a solid adenoma in the left thyroid lobe and Technetium-99m thyroid scintigraphy showed a high level of\r\naccumulation into the same lesion, indicating that toxic nodular goiter (TNG) was the cause of hyperthyroidism. Despite serum thyroid hormones remaining at normal levels,\r\nserum TSH levels went on decreasing gradually until transsphenoidal surgery to treat a growth hormone (GH) secreting pituitary adenoma. Interestingly, as IGF-I\r\nand GH levels normalized after operation, the serum TSH level increased and finally reached the normal level without\r\nintervention to the thyroid. Additionally, accumulation of Technetium-99m seen with thyroid scintigraphy slightly decreased. The evidence obtained from this case may\r\nsuggest a novel mechanism whereby excessive secretion of thyroid hormones from TNG in an acromegalic patient is\r\nregulated by IGF-I.

Context. On naked eye examination adrenal myelolipoma (AML) tissue appears to be an ectopic adrenal or renal tissue, based on the similarity to their external texture. This necessitates a histo-pathological study for confirming the origin of the tissue. Objective. To establish the origin and histological features of the incidental AML tissue found during cadaveric dissection and review the literature for similar findings with clinical picture and treatment description. Subjects and Methods. Unilateral adrenal gland obtained from cadaveric dissection was subjected to histological study by H & E staining of the slides prepared. The literature review was done from articles published in PubMed indexed journals. Case report. A case of an incidental finding of AML during cadaveric dissection is presented which on naked eye examination was appearing to be an ectopic adrenal or renal tissue, based on the similarity to their external texture. On histological examination, a thin rim of adrenocortical tissue, surrounding the mature adipose tissue, and attenuated by islets of myeloid, erythroid and megakaryocytic cell lines in varying proportions, resembling the mature bone marrow morphology, was observed. The literature review on PubMed explains similar incidental post-mortem autopsy findings due to the asymptomatic nature of the tumor. The incidence of AML varied between 0.08% and 0.2% in the last decade of the 20th century, which increased up to 10 – 15% of incidental adrenal masses due to the widespread use of non-invasive imaging modalities leading to an increase in the diagnosis of the pathology. Conclusion. Before considering the ectopic incidence of tissue during cadaveric dissection, a histopathological examination is mandatory for confirmation. Adreno-myelolipoma is an asymptomatic post-mortem finding in 10-15% of cases of adrenal tissue which mimics ectopic adrenal gland or renal tissue due to its external texture.

Pituitary apoplexy (PA) is a life-threatening clinical syndrome. Dopamine receptor agonists are the drugs of choice in the treatment of prolactinomas. The use of cabergoline is reported to cause an increased risk of PA, particularly in macroprolactinomas of cystic nature. In this report, we present a patient with a cystic macroprolactinoma who developed PA on the 16th week of cabergoline treatment.

Context. Phosphoinositide-3-kinase (PI3K) pathway inhibitors are increasingly used as targeted therapy in malignancies. We discuss here three cases of PI3K inhibitor induced hyperglycemia and discuss the mechanism of action of these medications and treatment of this class side effect. Objectives. Alpelisib (Piqray) is the newest PI3K inhibitor used in conjunction with Fulvestrant to treat specific types of breast cancer. Since PI3K is a critical mediator of insulin signaling, hyperglycemia is an on-target, unfortunate side effect of this treatment. We present a case series of severe hyperglycemia induced by the alpelisib in three women without a history of diabetes. Design. All three women in this study had hormone receptor (HR) positive, human epidermal growth factor receptor 2 (Her2) negative, PI3K mutated breast cancer. They were referred to our clinic by Oncology for alpelisibinduced hyperglycemia. Subjects and Methods. Review of laboratory values and glucometer values were conducted during each visit allowing treatment decisions. Two of these women are actively managed by us for their diabetes. One woman recently died due to progression of malignancy. Results. All three women presented with new onset of severe hyperglycemia after the initiation of PI3K inhibitor, alpelisib. At least one case noted maximal glucose elevation in the hours following drug ingestion. In another, cessation of Alpelisib reversed the hyperglycemia within the span of one week. Conclusion. Hyperglycemia induced by PI3K inhibitors can be recalcitrant and might necessitate interruption of chemotherapy. Optimal glucose-lowering therapy remains unclear as exogenous insulin has the theoretical potential to overcome PI3K inhibition.