Endocrine hypertension is an uncommon but treatable cause of secondary hypertension. It results from excessive hormone production by the endocrine glands or due to ectopic hormone production. The causes of abnormal hormonal production can be congenital or acquired. Specific syndromes can also predispose to the development of endocrine hypertension. Extensive catecholamine production can occur due to pheochromocytomas and paragangliomas. Excessive aldosterone secretion by the adrenal cortex commonly occurs due to idiopathic (bilateral) adrenal hyperplasia or aldosterone-producing adrenal adenomas. Excessive cortisol production can occur secondary to abnormalities in the adrenal gland, the pituitary gland, or ectopic hormone production, or it can be caused by exogenous steroid intake. Other endocrine conditions that can lead to hypertension include acromegaly, primary hyperparathyroidism, hyperthyroidism, and hypothyroidism. Imaging plays a vital role in diagnosing the cause of endocrine hypertension, leading to appropriate management. The clinical presentation and laboratory investigations serve as a guide to the appropriate imaging investigation that needs to be performed to confirm a diagnosis.

The role of iodine treatment in congenital and acquired non-autoimmune subclinical hypothyroidism (SH) remains unclear, although it has been demonstrated that iodine can improve thyroid function in some dyshormonogenetic defects. We aimed to evaluate the effect of iodine administration in children with congenital hypothyroidism (CH) with gland in situ (GIS) and non-autoimmune SH diagnosed during childhood. 13 children with CH and GIS and 19 with non-autoimmune SH (7 females, 25 males; median age 10 years) were given iodine for 9 months at increasing doses from 50 µg/day to 150 µg/day, after stopping levothyroxine (LT4), when taken. 4 children had DUOX2 mutations, whereas the etiology was unknown in the remaining cases. Thyroid hormones, anti-thyroid antibodies and ultrasound were evaluated every 3 months for 12 months and then after 1 year. At increasing of the daily iodine dose, there was in both groups a slight progressive increase in TSH, that became statistically significant only after 150 µg/day, both in the SH group (p 0.044) and in the whole group (p 0.015). The other parameters did not change with treatment. No children developed thyroid autoimmunity, even one year after iodine withdrawal, and iodine treatment did not modify the course of disease as shown by follow-up data. This study shows a failure of physiological doses of iodine to improve mild CH with GIS and idiopathic SH. The increase of serum TSH during treatment may reflect the spontaneous course of the disease in children rather than a detrimental effect of iodine.

Cantú syndrome involves fetal polyhydramniosis, congenital hypertrichosis, and macrosomia. Distinctive features include acromegaloid features with broad nasal bridge and macroglossia as well as cardiac abnormalities, including patent ductus arteriosus. We present a case in a male patient, who presented with cardiac abnormalities in childhood, but was diagnosed with the syndrome in adulthood after many years of atypical symptoms such as multiple endocrinopathies and infection susceptibility. He had surgery for a patent ductus arteriosus in early childhood. During adulthood, he developed idiopathic pericarditis. Extensive rheumatological investigations were made, and in parallel, several endocrinopathies were found. These included thyroiditis with subsequent hypothyroidism, idiopathic partial hypocortisolism, and GH insufficiency. In addition, he had mild neutropenia and required hospitalization twice because of Streptococcus pyogenes infections. Immunodeficiency screening has not revealed a specific primary immunodeficiency, yet transient neutropenia, low count of CD8+ effector memory T cells, as well as lymphocyte responses, was seen during bacteremia. The diagnose was made after a trio-whole genome sequencing identified a pathogenic missense variant of the gene ABCC9 (c.3460C > T;p. (Arg1154Trp)) causing Cantú syndrome.

N-acetyl-d-neuraminic acid synthase-congenital disorder of glycosylation (NANS-CDG) is a rare autosomal recessive defect in the N-acetyl-neuraminic acid biosynthesis pathway. Herein, we report the first Korean NANS-CDG patient. A 10-year-old boy was referred to our clinic because of incidental radiographic findings indicating spondyloepimetaphyseal dysplasia. The patient had microcephaly, cavum septum pellucidum, and ventriculomegaly at birth, and at 10 years, a very short stature. He had a history of idiopathic chronic immune thrombocytopenia, central adrenal insufficiency, and hypothyroidism since infancy. The first unprovoked seizure occurred at the age of 2 years, and he was subsequently admitted to the hospital frequently because of respiratory infections and intractable seizures. Exome sequencing identified unreported biallelic variants of the NANS gene. Clinical and genetic confirmation of NANS-CDG highlights its expanding phenotypic and genotypic diversity.

Isolated adrenocorticotropic hormone deficiency (IAD) is considered to be a rare disease. Due to the nonspecific clinical presentation, precise data on the prevalence and incidence are lacking. In this systematic review, we aimed to analyse the clinical characteristics, association with autoimmune diseases, and management of acquired idiopathic IAD cases. A structured search was conducted after developing a search strategy combining terms for acquired (idiopathic) IAD. Articles describing an adult case with a diagnosis of ACTH deficiency using dynamic testing, no deficiency of other pituitary axes, and MRI of the brain/pituitary protocolled as normal, were included. Exclusion criteria were cases describing congenital IAD, cases with another aetiology for IAD, and articles where full text was not available. In total 42 articles were included, consisting of 85 cases of acquired idiopathic IAD. Distribution by sex was approximately equal (F:M; 47:38). Lethargy was the most common presenting symptom (38%), followed by weight loss (25%), anorexia (22%), and myalgia/arthralgia (12%). Eight cases (9.5%) presented with an Addison crisis. 31% of cases had an autoimmune disease at diagnosis of which Hashimoto hypothyroidism was the most frequent. Data about follow-up was scarce; dynamic testing was repeated in 4 cases of which 2 showed recovery of the adrenal axis. We report the largest case series of acquired idiopathic IAD to date. Our systematic review highlights the lack of a clear definition and diagnostic work-up. Based on the findings in this review a proposition is made for a flowchart to diagnose acquired idiopathic IAD.