bluuebunny/crossref_metadata_2025_split huggingface dataset:
Adrenal incidentaloma: A case report of Pheochromocytoma (PCC) with atypical radiological features
Authors: Al Waeli Dheyaa Kadhim , Albaghdadi Firas Abdullah , Naeem Mosa Hameed 
Published: January 2023

Abstract

Introduction
Adrenal incidentaloma (AI) is an adrenal lesion ≥ 1 cm discovered accidentally during an imaging technique not aimed to assess the adrenal gland (1). Most AIs are benign and nonfunctioning, about 20% are functioning in form of hypercortisolism, hyperaldosteronism, pheochromocytoma (PCC) or sex steroid overproduction (2). Computed Tomography (CT) scan is vital in differentiating adenoma from non-adenoma. Triphasic CT adrenal protocol (TCTAP) with absolute percentage washout (APW) has good sensitivity and specificity in diagnosis of AI. Here we present a case of PCC with atypical CT features.

Clinical Case
A 45 years old male patient presented with abdominal pain, abdominal US revealed a right suprarenal mass of 55 mm and referred to endocrinologist for further management. During assessment, the patient had attacks of hypertension, no cushingoid features, BMI was 35 kg/m2 and his blood pressure 180/120 mmHg.
Normetanephrine was very high (1016.9 pg/mL), cortisol (10.1 μg/dL), suppressible serum cortisol (1.7 μg/dL), normal DHEA-S (110 μg/dL) and ACTH was 13 pg/mL. Aldosterone, renin, aldosterone/renin ratio (ARR), Metanephrine, K+ are normal.
TCTAP showed a homogenous 51×46 mm right adrenal mass of a native Hounsfield units (HU) of 25, portal phase HU of 86, delayed phase (at 15 minute) HU of 36 and APW was 81%, which are features consistent with lipid poor adenoma (LPA) rather than PCC or carcinoma.
The patient referred to surgery, right adrenalectomy had been done after good preparation and the diagnosis of PCC had been confirmed by histopathological (HP) and immunohistochemical (IHC) staining.
TCTAP used to differentiate adenomatous from non-adenomatous AI with good sensitivity and specificity (3). PCC is an uncommon with variable clinical presentation ranging from severe symptoms to very mild and even sometimes discovered incidentally as AI with about 1.5–14% of all cases of AIs (1). PCC has heterogeneous texture, variable sizes, native HU &gt; 10, avid enhancement and slow washout (4). The present AI was homogenous, has a native HU of 25 and has avid enhancement at portal phase reaching to 86 HU, but the APW was 81% which is atypical for PCC, making lipid poor adenoma at the top list of differential diagnoses. Hormonal assessment revealed the diagnosis of PCC which was confirmed by histopathological (HP) and immunohistochemical (IHC) staining. An American study showed that two of eight PCCs have an APW &gt; 60%, but both of these cases have native HU&lt; 10 and the APW had been calculated at 10 minutes (5). Coincided with our patient and our protocol of 15-minute APW calculation, Yoon et al presented a case of PCC with native HU of 37, portal phase HU of 127 and delayed phase HU of 62 HU with APW of 72% (6).

Conclusion
PCC is serious condition, could be asymptomatic and may be presented with a typical radiological feature, so biochemical and hormonal assessment is a cornerstone in management of AI.
Hypokalemic paralysis; an unusual presentation of Conn's Syndrome
Authors: Güller Pınar Üzgeç , Şahin Alak Zehra Yağmur , Güçlü Metin , Kıyıcı Sinem 
Published: January 2023

Abstract

Introduction
Primary aldosteronism (PA) is the most common cause of secondary hypertension. It is caused by excessive aldosterone secretion in adrenal cortex. The typical presentation of PA at young patients, is resistant hypertension and hypokalemia. In recently published series, potassium levels are frequently reported normal. Normotension is also rare in these patients. We report a case of PA, presenting with hypokalemic paralysis and normal blood pressure, atypically.

Clinical Case
A 33-year-old female patient with fatigue, muscle weakness and difficulty walking, was admitted to the emergency department. She had muscle weakness and numbness, especially in the arms and hands for two months. Flaccid paralysis of the limbs was observed at the time of admission. She did not report vomiting, diarrhea, abdominal pain or drug use such as diuretics. There was no history of hypertension. None of her family had hypertension or sudden death at younger age. On physical examination, her blood pressure was less than 140/90 mmHg in repetitive measurements with a manual sphygmomanometer. Lower extremity motor strength was 2/5 and deep tendon reflexes were absent. Biochemical tests revealed that hypokalemia (2 mmol/L) with metabolic alkalosis (pH: 7.47 HCO3:30 mmol/L) and kaliuresis (24-h urinary potassium 87.89 mmol). Serum magnesium level and thyroid function tests were within the reference ranges. After the treatment of hypokalemia, neuromuscular symptoms regressed. Extremely high aldosterone levels (58.5 ng/dL) with suppressed renin activity (0.3 uIU/mL) were detected in blood tests. The diagnosis of PA was confirmed by unsuppressed aldosterone levels (44 ng/dL) after the saline infusion test. Adrenal contrast-enhanced CT identified a solid mass in the right adrenal gland which was 18×10 mm in size, consistent with adenoma (Figure 1). She was referred to surgery. Postoperatively, serum potassium and plasma aldosterone levels returned to normal without medication. Her home blood pressures remained between 110/70 and 120/80 mmHg.

Conclusion
Aldosterone-producing adenoma (APA) is one the most common cause of PA. In APA, aldosterone levels and blood pressures tend to be high. It has been reported that only 28% of patients with hyperaldosteronism have had hypokalemia and 3.1% may be normotensive. We described a patient with PA who presented with flaccid paralysis due to hypokalemia, moreover, she was normotensive. It is a rare condition for primary aldosteronism to present with hypokalemic paralysis. Delayed diagnosis and treatment can be life threatening.
In conclusion, we should consider primary aldosteronism in the differential diagnosis of severe hypokalemia and to keep in mind that patients may rarely be normotensive.
Progressive height increase in an adult patient: Aromatase Deficiency
Authors: Akçay Seçkin , Yavuz Dilek 
Published: January 2023

Abstract

Introduction
Aromatase deficiency (AD) is a rare autosomal recessive disease in that androgens are not converted into estrogens due to the CYP19A1 gene mutation. As estrogen deficiency is predominant, it is easier to diagnose females presented with ambigus genitalia, virilization and lack of secondary sexual characteristics during puberty. Diagnosis of aromatase deficiency is challenging in male patients. Male subjects usually present with bone and metabolic abnormalities. Here, we present a 31-year-old patient with a late diagnosis of aromatase deficiency.

Clinical Case
A 31-year-old male, medical doctor, was admitted to the Marmara University endocrinology outpatient clinic with a 5 cm progressive increase in height within 6 years, also complain of bone pain and cramps. Family history reveals born with ambiguous genitalia, etiology was not detected and she is followed up with oral contraceptive pills. In physical examination, his height was 193 cm and weight was 103 kg. He had eunuchoid body habitus. Secondary sexual characteristics were normal. Laboratory tests revealed that FSH:25.3 IU/l (1.5–12.4), LH:11.7 IU/l (1.7–8.6), total testesterone:957 ng/dl (249–836), E2&lt;5 ng/l (11.3–43.2), DHEA-S:793 µg/dl (160–449), 17-OH progesterone:2.82 µg/l (0.5–2.1), Prl:7 µg/l (4.04–15.2), osteocalcin:44.1 ng/ml (9–42), Ca:9.7 mg/dl (8.8–10.5), P:3.3 mg/dl (2.5–4.5), ALP:208 U/l (33–98), PTH:12.7 µg/l (15–65), 25-OH vitamin D:29.3 µg/l, AST:47 U/l (10–37), ALT:40 U/l (10–37).
Bone survey demonstrated that bilateral humerus, radius, ulna, femur, tibia and fibula epiphyses were still unfused, bilateral genu varum, bilateral hallux valgus, scaphocephaly, scoliosis (Fig 1). Bone densitometry results were in osteoporotic range BMD at the femoral neck was 0.684 g/cm2, Z score was -2.6 and at the lumbar spine was 0.895 g/cm2, Z score was -2.
An incidentaloma (12×6 mm) detected in the right adrenal gland and testicular dimensions in scrotal ultrasound were normal. 1 mg DST was 0.24 µg/l, 24-hour urine metabolites were in the normal range, so it was evaluated as non-functional adenoma.
In the genetic analysis, homozygous exon 6 deletion was detected in the CYP19A1 gene. Genetic counseling was recommended for CYP19A1 gene mutation. Since liver function tests were elevated mildy, 12.5 μg transdermal estradiol was started. Androgens follow-up and bone survey 1 year later were planned.

Conclusion
AD should be kept in mind progressive height increase in adults other than gigantism. Since estrogen is essential for epiphysis fusion, bone health, fat and carbohydrate metabolism, estrogen treatment should be initiated as early as possible before bone and metabolic abnormalities develop.
Very high parathormone levels may not always be due to primary hyperparathyroidism
Authors: Pekkolay Zafer , Ülük Bermal 
Published: January 2023

Abstract

Introduction
Secondary hyperparathyroidism is a disease characterized by parathyroid gland hyperplasia originating from a localization other than the parathyroid gland. Common causes of this condition are kidney failure and vitamin D deficiency. Here, we presented a case of secondary hyperparathyroidism to sleeve gastrectomy.

Clinical Case
A 46-year-old female patient who applied to an external medical center with fatigue, weight loss, and muscle and joint pain was referred to our clinic with a diagnosis of primary hyperparathyroidism. In the examinations of the patient, PTH 455 pg/mL (normal range 15–65 pg/mL), 25-hydroxy vitamin D 4,95 uq/L, Ca total 8,8 mg/dL (normal range 8,5–10,5 mg/dL), phosphorus 7,4 mg/dL (normal range 2,5–4,5 mg/dL), Ca 24h urine 9,5 mg/day. No anomaly was detected in the neck USG imaging of the patient. In the detailed history, it was learned that a sleeve gastrectomy was performed in December 2016. It was understood that the PTH level was well above normal due to insufficient vitamin D absorption, leading to secondary hyperparathyroidism. We made a treatment plan for the patient diagnosed with secondary hyperparathyroidism. For six weeks, the patient was given cholecalciferol, 50,000 IU per week. Treatment was continued with daily maintenance of 2,000 IU. During the follow-up of the patient, parathormone levels reached normal values.

Conclusion
After sleeve gastrectomy, vitamin and mineral deficiencies are frequently encountered due to malabsorption. Very high parathormone levels may not always be due to primary hyperparathyroidism. Vitamin D deficiency can sometimes raise parathormone levels too high.
Mucopolysaccharidosis type 4 (Morquio syndrome): A case report
Authors: Akçay Seçkin , Akagündüz Fırat , Ölmez Osman , Öztürk Hişmi Burcu , Gözü Hülya 
Published: January 2023

Abstract

Introduction
Mucopolysaccharidosis (MPS) IVA (Morquio syndrome) is a rare lysosomal storage disease, that is caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS) due to an autosomal recessive mutation in the GALNS gene. Herein, we present a MPS IVA case without regular follow-up, whose enzyme replacement was planned to start at age 30 for the first time, so as to attract attention to this rare disease.

Clinical Case
A 30-year-old female patient diagnosed with MPS IVA, that was evaluated due to corneal clouding referred to the Marmara University endocrinology outpatient clinic for enzyme replacement. On admission, she complains of impaired vision, hearing loss, hypoglycemic symptoms and numbness of hands and feet. While she was normal for about 2 years after birth, she was noticed for delays in crawling and walking from 2–3 year of age. However, she had definitive diagnosis of MPS-IVA at the age of 9 years, with low enzymatic analysis and genetic mutation in the GALNS gene located on chromosome 16q24.3. She operated on for bilateral glaucoma and cerebellar mass when she was 17. Her parents were third degree consanguineous, and she had one healthy younger brother. On physical examination, blood pressure: 99/67 mmHg, pulse: 72/min, temperature: 36°C, SpO2:99. She was in a wheelchair. Her height was 92 cm, weight was 30 kg, BMI: 25.6 kg/m2. Disproportionate short stature, coarse facial features, hypertelorism, genu valgum, pectus carinatum, kyphoscoliosis, were detected. Her neuromotor development was normal. Laboratory findings were unremarkable except for vitamin D hypovitaminosis. Radiographic findings were dysostosis multiplex, include abnormally shaped vertebral bodies with anterior beaking, posterior scalloping, platyspondyly and dens hypoplasia, thoracolumbar kyphosis, short, broad metacarpals, acetabular dysplasia, genu valgum, pectus carinatum, paddle-shaped ribs and short, and thick clavicles (Fig 1). Bone densitometry results were in osteoporotic range BMD at the femoral neck was 0.491 g/cm2, Z score was -2.8 and at the lumbar spine was 0.707 g/cm2, Z score was -3.6. She continued the 6-min walk test with the help of a walker and knee pad for 2.37 minutes and walked 3.4 meters. Echocardiography demonstrated that ejection fraction was 65%, normal left ventricular systolic function, no ventricular segmental wall motion defect, aortic 3 cusps, mild to moderate aortic valvular regurgitation, mild mitral valvular regurgitation. Pectus carinatum was detected on thorax CT imaging, whereas a restrictive disease pattern was not observed in PFT and DLCO. Bilateral severe mixed hearing loss was detected. Recombinant human GALNS (elosulfase alfa), 2.0 mg/kg/week, was planned to administer IV in 4 hr.

Conclusion
Because of the progressive nature of MPS- IVA, early diagnosis and early initiation of enzyme replacement therapy are critical to prevent cumulative systemic manifestations of the patient, especially the skeletal system.
Prolonged remission in latent autoimmune diabetes of adults (LADA): Is insulin resistance a major influence?
Authors: Rocha José Vicente , Alexandre Maria Inês , Gomes Ana Coelho 
Published: January 2023

Abstract

Introduction
Type 1 diabetes mellitus (T1DM) is a chronic inflammatory disease that courses with high serum glucose levels as a result of pancreatic beta cell destruction and subsequent insulinopenia. LADA is a type of autoimmune diabetes where damage to the beta cell occurs much slower. The natural history of type 1 diabetes is very heterogeneous and variable. This is especially true for LADA with several possible different clinical courses due to a wider variety of pancreatic cell destruction and insulin resistance. Clinically overt diabetes ensues when more than 80% of pancreatic cell mass is loss. After treatment initiation partial disease remission is common, especially in children. However complete remission is rare, and remission lasting for over a year is even rarer, with few reports published in literature. Some agents such as vitamin D and DPP4 inhibitors have been presented has having potential immunomodulatory effects.

Clinical Case
A 36-year-old man with grade 1 obesity (BMI 33 kg/m2) presented at the emergency department with symptoms of insulinopenia (polyuria and polydipsia in the previous 3 months) and hyperglycemia (capillary blood glucose &gt;500mg/dL). Ketonemia was negative and pH was normal on blood gas analysis The diagnosis of diabetes mellitus was made and insulin therapy was instituted on a basal-bolus regimen. At the first follow-up appointment, due to his morphotype and familiar history of type 2 diabetes (mother diagnosed at 52 years of age), he stopped short-acting insulin and was started on metformin and SGLT2 inhibitor. A week later he was admitted in the hospital in euglycemic ketoacidosis. Initial workup revealed positive anti-GAD 41.8 U/mL, HbA1C 9.8%, C-peptide 1.83 ng/mL, serum insuline 17.4 uU/mL. Consequently, metformin and SGLT2 inhibitor therapy was stopped, and the patient resumed basal bolus insulin regimen. He then remained under a basal insulin without need of meal-time insulin bolus, progressively lowering the basal insulin dose until suspension four months later. Simultaneously, lifestyle changes were implemented with significant weigh loss (BMI 33 &gt; 26.4 kg/m2 at the time of insulin suspension). After 3 years of follow-up the patient remains without need of antidiabetic therapy, with normal Hba1c 5.3%. Anti-GAD antibodies remain positive (39.4 U/mL) but C-peptide and serum insulin are within the reference range (1.69 ng/mL [1.1–4–4], 6.9uU/mL [2.6–25], respectively).

Conclusion
Prolonged disease remission in type 1 diabetes is rare. This case highlights an especially long “honeymoon” period in a patient with LADA. Obesity and insulin resistance probably played a role in the initial patient presentation, and its improvement probably helps to justify this prolonged remission. In spite of the family history of diabetes, other types of diabetes seem unlikely due to positive antibodies and SGLT2 inhibitor associated euglycemic ketoacidosis.
Successful treatment of a case of Congenital Lipodystrophy with 1 mg subcutanous Semaglutide
Authors: Almudhammed Rana Abdulsalam 
Published: January 2023

Abstract
25-year-old female presented to the endocrine clinic suffering from uncontrolled blood sugar and irregular period, she was diagnosed with type 1 diabetes since she was 15 and treated with premixed insulin, on the other hand she was diagnosed with polycystic ovary syndrome and treated with oral contraceptive pills, on examination; there is acanthosis nigricans in the axilla and forearm, android lean body habitus and acromegalic face, hirsutism and prominent veins. Labs revealed high triglyceride (more than 1000 mg/dL), high fasting insulin, high total testosterone 0.9 ng/mL, HbA1c 14,5%, high ALT, albuminuria, she is using very high doses of insulin yet uncontrolled, we diagnosed her as generalized lipodystrophy, the drug of choice is metroleptin which is not available, so I started pioglitazone 45 mg with semaglutide 1mg, gradually weaned off insulin. After 3 months of treatment her HbA1c declined to 7 without insulin, triglyceride to 422 mg/dL, proteinuria declined but was not normalized. We postulate the hypothesis that the insulin sensitizing properties of GLP1 agonist in the treatment of insulin resistance syndromes can be implemented particularly in countries with middle and low socioeconomic status that don't have access to the expensive drugs.
Figure 1. Patient footage oral consent taken. Table 1.Results of biochemical parameters before and after treatment.
New-Onset Type 1 Diabetes Mellitus (T1DM) in a Pediatric Patient with Beckwith-Wiedemann Syndrome
Authors: Ehsan Lubaina , Anz Reem , Asebes Hannah , Longmire Berrin Ergun 
Published: January 2023

Abstract

Introduction
Beckwith-Wiedemann Syndrome (BWS) is the most common overgrowth syndrome with up to 50% of infants found to have hypoglycemia which has been believed to be related to hyperinsulinemia. However, our case report highlights a patient with the unusual presentation of concurrent BWS and T1DM along with the discussion of genetic factors that may contribute to the pathogenesis.

Clinical Case
We present the case of a 4-year-old African American female with a past medical history of BWS, twin gestation, prematurity, omphalocele, and patent ductus arteriosus. Her BWS had been diagnosed at birth via genetic testing which found a loss of methylation on the maternal chromosome at imprinting center 2 (IC2) on chromosome 11. During her newborn period, she did not have hypoglycemia. She presented to her primary care physician with a 2.4-kilogram weight loss, new-onset headaches, polyuria, and polydipsia for three months. She also had a viral upper respiratory tract infection a month prior to presentation. Her twin sister did not have similar complaints. Her physical exam including vital signs was reassuring. With the concern for diabetes, further work-up was done which showed an elevated serum glucose level of 681 mg/dL, and hemoglobin A1C of 12.4%. She was admitted for new-onset diabetes. Further labs on admission also showed elevated transglutaminase IgG and positive glutamic acid decarboxylase 65 (GAD65) antibody (level: 444 nmol/L, normal: ≤0.02 nmol/L). Notably, no acidosis was detected in the initial investigations and, unfortunately, due to laboratory error the diabetes antibody panel was cancelled. She was started on a basal-bolus insulin regimen with the diagnosis of new-onset T1DM without ketoacidosis.
BWS does not have T1DM as a known characteristic. Hypoglycemia secondary to hyperinsulinemia rather than the opposite, such as our case, is associated with BWS. Due to this, our case is rare, and we found a case report from Europe describing a similar phenomenon. Our patient had a GAD65 antibody being positive which explains having T1DM although there are no studies showing the association of BWS with a positive GAD65 antibody. Our patient also had a viral infection prior to the diagnosis of T1DM which may have triggered autoimmunity. Further, IC2 loss of methylation present in our patient regulates the expression of CDKN1C which has been previously reported to be associated with diabetes.

Conclusion
Further studies will be required to identify the possible case of T1DM in a patient with BWS. We plan on obtaining a diabetes antibody panel to further assess the genetics of our patient.