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Congenital Isolated ACTH Deficiency


  • We describe a case of a newborn presenting with hypoglycaemia and cholestatic jaundice, who was found to have low cortisol and ACTH levels.[casereports.bmj.com]
  • At birth craniofacial dysmorphisms and left-side clubfoot were present. At the age of 2 months hepatitis was diagnosed on the basis of elevated bilirubin and liver enzymes levels.[abstracts.eurospe.org]
  • We discuss the protean presentation of this rare but important condition, its treatment, associations, and possible aetiologies.[link.springer.com]
  • The 2 neonatal cases presented with hypoglycemia and in a state of “apparent death” at birth or hypothermia (29 C) at 6 days.[journals.plos.org]
Death in Childhood
  • Shulman DI, Palmert MR, Kemp SF, for the Lawson Wilkins Drug and Therapeutic Committee (2007) Adrenal insufficiency: still a cause of morbidity and death in childhood. Pediatrics 119(2): e484–494. View Article Google Scholar 12.[journals.plos.org]
  • Belsham and Manuel Tena-Sempere, Generation of Immortal Cell Lines from the Adult Pituitary: Role of cAMP on Differentiation of SOX2-Expressing Progenitor Cells to Mature Gonadotropes, PLoS ONE, 6, 11, (e27799), (2011). Leah B. Goldberg, Paven K.[www3.interscience.wiley.com]
  • The 2 neonatal cases presented with hypoglycemia and in a state of “apparent death” at birth or hypothermia (29 C) at 6 days.[journals.plos.org]
Congestive Heart Failure
  • RX: includes correction of acidosis, liberalization of sodium intake, and judicious use of fludrocortisone as required for controlling the potassium elevation without inducing congestive heart failure.[enotes.tripod.com]
  • TBX19 Gene - elite association - COSMIC cancer census association via MalaCards ACTH deficiency, isolated (IAD) [MIM:201400]: A disorder that is characterized by adrenal insufficiency symptoms, such as weight loss, lack of appetite (anorexia), weakness, nausea[genecards.org]
  • Adrenal insufficiency may mimic features of acute abdomen with abdominal tenderness, nausea, vomiting, and fever. 3.[slideshare.net]
  • Disease description An autosomal recessive disorder that is characterized by adrenal insufficiency symptoms, such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting and low blood pressure (hypotension).[uniprot.org]
  • Signs of under-replacement are the symptoms of Addison's disease persisting, ie fatigue, postural hypotension, nausea, weight loss, and salt craving.[patient.info]
  • Case 2 A 64-year-old-man visited our emergency room with nausea, vomiting, and dizziness after a recent history of upper respiratory infection.[synapse.koreamed.org]
Heart Disease
  • In elderly patients or those with ischemic heart disease levothyroxine may be initiated at lower doses (25-50 mcg/d) and titrated slowly. (See chapter on “Hypothyroidism.”)[endocrinologyadvisor.com]
  • We describe a case of a newborn presenting with hypoglycaemia and cholestatic jaundice, who was found to have low cortisol and ACTH levels.[casereports.bmj.com]
  • Late onset forms No patient showed any features suggesting hypoglycemia, hypothermia or prolonged jaundice during the first 3 years of life.[journals.plos.org]
  • […] hypoplasia Small adrenal glands 0000835 Fatigue Tired Tiredness [ more ] 0012378 Hyponatremia Low blood sodium levels 0002902 Hypotension Low blood pressure 0002615 30%-79% of people have these symptoms Hypoglycemic seizures 0002173 Prolonged neonatal jaundice[rarediseases.info.nih.gov]
  • Otsuka F, Yamamoto K, Shimada N et al (2004) Cholestatic jaundice: an unusual symptom of isolated adrenocorticotropin deficiency in adults. J Endocrinol Invest 27(4):404–405 PubMed Google Scholar 11.[link.springer.com]
  • All those with a mutation and only one patient without one suffered from hypoglycemia; the two groups differed in the frequency of cholestatic jaundice associated with hepatomegaly in 4 cases which disappeared after Hydrocortisone therapy (11/17 of those[journals.plos.org]
Liver Dysfunction
  • Conclusion: In the case of severe hypoglycemia associated with neonatal liver dysfunction the diagnosis of congenital isolated ACTH-deficiency should be considered.[abstracts.eurospe.org]
Psychomotor Retardation
  • Nozue et al [4] reported the case of a patient with isolated ACTH deficiency and psychomotor retardation, suggesting the specific role of the hypoglycemia and/or low blood pressure.[journals.plos.org]
  • CONCLUSION: TPIT mutations are responsible for two thirds of neonatal-onset complete IAD but can not be detected in partial or late-onset IAD.[ncbi.nlm.nih.gov]
  • We investigated the Tpit gene coding sequences in 28patients (22 unrelated families) presenting with neonatal onset IAD. We found a Tpitmutation in 17/28 patients (61%).[documents.tips]
  • Here we report the screening of the Tpit gene in seven patients with IAD, one of which had neonatal onset. Genomic DNA was extracted and the sequences of the 8 Tpit exons and their intron/exon junctions were determined by automated sequencing.[endocrine-abstracts.org]
  • Mutation in this gene is responsible for neonatal-onset form of congenital isolated ACTH deficiency (IAD). The genetic variation at the human gene locus is related to the personality trait angry/hostility.[sigmaaldrich.com]
  • We demonstrated that human and mouse mutations of the TPIT gene cause a neonatal-onset form of congenital isolated ACTH deficiency (IAD). In the absence of glucocorticoid replacement, IAD can lead to neonatal death by acute adrenal insufficiency.[lirias.kuleuven.be]
Sexual Dysfunction
  • Hormonal investigations concluded also to a moderate hyperprolactinemiaat 39 ng/mL.Thelatter affects approximately one third of patients with LYH, causing amenorrhea/galactorrhea in women and sexual dysfunction in men. [8], [15] Several causes have been[ijem.in]


  • An incidental adrenal mass must undergo a workup for hypersecretion. Surgical removal is indicated if the mass is functional or greater than 4-5 cm in size.[ocw.tufts.edu]
Pericardial Effusion
  • Pecori Giraldi F, Fatti LM, Cavagnini F (2005) Isolated corticotrophin deficiency presenting with pericardial effusion. J Endocrinol Invest 28(9):831–833 PubMed Google Scholar 14.[link.springer.com]


  • The patient's cholestasis was present since birth until the treatment with hydrocortisone was started; following initiation of the treatment, the patient's condition improved significantly and both, his total and direct bilirubin levels started trending[casereports.bmj.com]
  • Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]


  • The prognosis for any patient with adrenal insufficiency will depend on the underlying cause. In those patients in whom the prognosis is not affected by the underlying pathology, replacement therapy should result in a return to health.[patient.info]
  • However, the prognosis for an untreated patient with adrenal insufficiency (Addison disease) is poor.[emedicine.medscape.com]
  • Biological diagnosis and how to obtain a more rapid diagnosis The vital prognosis is engaged by the ACTH deficiency, but diagnosis is difficult and sometimes missed: 6 of our 8 patients had previously been admitted to intensive care units at least once[journals.plos.org]
  • . - Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.[fr.ap-hm.fr]


  • We conclude that the diagnosis of this condition may be difficult due to the varied clinical presentation and etiologies. References Irvine WJ, Barnes EW: Adrenocortical insufficiency. Clin Endocrinol Metab 1972;1:549–594.[karger.com]
  • Still another type of adrenal hypoplasia congenita, an autosomal recessive form of uncertain etiology, has also been described (OMIM 240200 ).[emedicine.medscape.com]
  • (See "Etiology and treatment of hypoaldosteronism (type 4 RTA)", section on Congenital adrenal hyperplasia and isolated hypoaldosteronism, which reviews the biosynthetic defects in this disorder).[enotes.tripod.com]
  • Symptoms and Signs Manifestations of growth hormone deficiency depend on the patient's age, the underlying etiology, and the specific hormone deficiencies.[merckmanuals.com]
  • Endogenous Cushing's may be due to a pituitary, adrenal or ectopic etiology. The workup involves the determination that the syndrome is present followed by testing to determine the specific etiology.[ocw.tufts.edu]


  • Relevant External Links for TBX19 Genetic Association Database (GAD) TBX19 Human Genome Epidemiology (HuGE) Navigator TBX19 Atlas of Genetics and Cytogenetics in Oncology and Haematology: TBX19 No data available for Genatlas for TBX19 Gene A pituitary[genecards.org]
  • […] androstenedione, and testosterone Every 3 months during infancy and every 3-6 months thereafter For assessment of mineralocorticoid replacement Blood pressure measurement Plasma renin/renin activity Aldosterone and potassium levels may also be helpful Background Epidemiology[arupconsult.com]
  • Epidemiology. AME is rare, having been identified in only approximately 40 patients worldwide in the past 20 years.[pnas.org]
  • Epidemiology [ 1, 2 ] Primary insufficiency - this is a relatively rare condition. The annual incidence is about 1 in 10,000 people, with a prevalence in the UK of about 8,400. Across Europe, prevalence is estimated as 93-144 per million.[patient.info]
  • Epidemiology Familial glucocorticoid deficiency (FGD) is a rare disease, and only isolated case reports are documented.[emedicine.medscape.com]
Sex distribution
Age distribution


  • Dr Van Vliet's research interests focus on the molecular pathophysiology of and screening for congenital hypothyroidism, and on the management and outcome of affected children.[chusj.org]
  • Grossman, The pathophysiology of pituitary adenomas, Best Practice & Research Clinical Endocrinology & Metabolism, 23, 5, (525), (2009).[www3.interscience.wiley.com]
  • Cytochrome P450 oxidoreductase deficiency Hexose-6-phosphate dehydrogenase deficiency ( H6PD variant) PAPSS2 deficiency ( PAPSS2 variant) Congenital lipoid adrenal hyperplasia ( StAR variants) P450scc side chain cleavage enzyme deficiency ( CYP11A1 variant) Pathophysiology[arupconsult.com]


  • Suggestions for prevention of adrenal crisis in patients at risk are provided for health care professionals and families. adrenal disorders morbidity/mortality adverse outcomes Accepted September 13, 2006.[pediatrics.aappublications.org]
  • With illness, corticosteroid dosages are increased (typically doubled or tripled) to prevent adrenal crisis. Mineralocorticoid replacement is not adjusted.[msdmanuals.com]
  • Hydrocortisone treatment (9 mg/m 2 /day) was started to prevent life-threatening complications.[frontiersin.org]
  • There is no evidence that treatment can prevent this autoimmune attack, which may also affect other organs in the same person.[netdoctor.co.uk]

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