Symptoma

Adrenocortical Hyperplasia

She presented initially with CS and underwent right adrenalectomy; a few years later she presented with macromastia and mastodynia, possibly due to estrogen excess from her remaining left adrenocortical masses. [ncbi.nlm.nih.gov]

  • Precocious Puberty

    puberty 2016 2017 2018 2019 Billable/Specific Code Pediatric Dx (0-17 years) Applicable To Precocious menstruation Type 1 Excludes Albright (-McCune) (-Sternberg) syndrome ( Q78.1 ) central precocious puberty ( E22.8 ) congenital adrenal hyperplasia [icd10data.com]

    Boys have peripheral precocious puberty, usually diagnosed very late with significant bone age advancement and compromised final height. 12. Simple Virilizing Form A A 6-yr-old girl with congenital virilizing adrenal hyperplasia. [slideshare.net]

    This causes virilisation in girls and adrenocortical insufficiency and precocious puberty in both sexes. In this article we describe the genetics, clinical picture, diagnostics and treatment. [tidsskriftet.no]

    It is particularly considered in patients with sexual maturation disorders, such as precocious puberty, delayed puberty, or sexual infantilism, and in those with hypertension and hypokalemia. [turkjem.org]

    It manifests as various degrees of virilization in girls and as precocious puberty in boys. Most cases are secondary to 21-hydroxylase deficiency. An elevated 17-hydroxy- progesterone level indicates the diagnosis of CAH. [humpath.com]

  • Pathologist

    The authors agree that AIMAH is one of the entities causing Cushing's syndrome, and advise pathologists to keep this disorder in mind when they examine the adrenals in Cushing's syndrome. [ncbi.nlm.nih.gov]

  • Hirsutism

    Manifestations seen in females are hirsutism, acne, anovulation and menstrual irregularities. Males (and some females) are asymptomatic. Hirsutism continues in adulthood and women can suffer from chronic anovulation and fertility problems. [orpha.net]

    Although most symptoms and signs of virilism disappear, hirsutism and baldness disappear slowly, the voice may remain deep, and fertility may be impaired. Tumors require adrenalectomy. [msdmanuals.com]

    Case 5: A 35-year-old women with a 17-year history of hirsutism, and a 2-year history of hypertension was refferred for further evaluation. [endocrine-abstracts.org]

    Marked regression of hirsutism, advanced somatic and muscular development, deep voice and elevated urinary 17-ketosteroids followed removal of an adrenocortical adenoma. [pediatrics.aappublications.org]

    Affected females may have early pubic hair development, advanced bone age, hirsutism, oligomenorrhea, and/or acne; these symptoms may resemble the manifestations of polycystic ovary syndrome. [merckmanuals.com]

  • No Pubic Hair

    Affected males may have early pubic hair development, growth acceleration, and advanced bone age. [merckmanuals.com]

    In women deficiencies of adrenal androgens results in an absence of axillary hair and pubic hair. [pathwaymedicine.org]

    hair, clitoromegaly, or both, often accompanied by accelerated growth and skeletal maturation (simple virilizing adrenal hyperplasia) Females with still milder deficiencies of 21-hydroxylase or 3-beta-hydroxysteroid dehydrogenase activity may present [emedicine.medscape.com]

    Usually, the diagnosis is made when very prematurely the boy’s penis enlarges, perhaps he grows some pubic hair, and he becomes unusually tall. These changes may not be noticed until two to three years of age. [betterhealth.vic.gov.au]

[…] genetic counseling and prenatal diagnosis of adrenal hyperplasia Newborn screening programs for 21-hydroxylase deficiency may be lifesaving in an affected male infant who would otherwise be undetected until presentation with a salt-wasting crisis [5] See Workup [emedicine.medscape.com]

Shortly after initiation of therapy, the patient reported decreased breast size and pain; she remains well controlled to date, after 10 years of treatment. [ncbi.nlm.nih.gov]

The prognosis for patients with adrenocortical adenoma after unilateral adrenalectomy is excellent, though it is important to avoid operative complications. [link.springer.com]

Prognosis Prognosis after treatment is good but quality of life may be affected due to the long-term effects of hypercortisolemia. Without treatment the disease is life-threatening as in the case of manifest hypercortisolism. [orpha.net]

This case serves to emphasize the need for a guarded prognosis and alert observation even years after an uneventful course following removal of an adrenocortical tumor. [pediatrics.aappublications.org]

Prognosis If appropriately treated, the prognosis for CAH and particularly CAH21 is good and most people have a normal life span. [encyclopedia.com]

The possible etiological coexistence of these two diseases is discussed. [ncbi.nlm.nih.gov]

Etiology The exact etiology is unknown but the adrenal overgrowth seen in AIMAH may be due to the expression of aberrant membrane receptors found in the adrenal cortex that regulate cortisol secretion and which are stimulated by gastric inhibitory polypeptide [orpha.net]

The first goal of this study is to identify any possible contributions of the BAH phenotypes and genotypes to the pathophysiology of PCOS, a yet unknown factor in the etiology of this multifaceted disorder. [clinicaltrials.gov]

We present five cases with different etiologies in order to review the topic which is sophisticated. Case 1: A 68-year-old woman with a 40-year history of hypertension was refferred for further evaluation of bilateral adrenal metastases. [endocrine-abstracts.org]

We summarize the recent insights concerning its epidemiology, diagnosis, genetics, pathophysiology, and therapeutic options. [journals.lww.com]

Summary Epidemiology Prevalence of endogenous CS is estimated at 1/26,000 and AIMAH represents less than 1% of the cases. [orpha.net]

Epidemiology Race Congenital adrenal hyperplasia occurs among people of all races. Congenital adrenal hyperplasia secondary to CYP21A1 mutations and deletions is particularly common among the Yupik Eskimos. [emedicine.medscape.com]

Recently, there have been several case reports of subclinical Cushing's syndrome due to AIMAH, in which the pathophysiological role of AVP has been unknown. [ncbi.nlm.nih.gov]

We summarize the recent insights concerning its epidemiology, diagnosis, genetics, pathophysiology, and therapeutic options. [journals.lww.com]

A recent pathophysiological study showed that cortisol production was regulated by aberrant membrane receptors and by corticotropin produced within the adrenocortical tissue. [ekjm.org]

The first goal of this study is to identify any possible contributions of the BAH phenotypes and genotypes to the pathophysiology of PCOS, a yet unknown factor in the etiology of this multifaceted disorder. [clinicaltrials.gov]

Though trilostane therapy could not prevent adrenal growth, it did suppress cortisol secretion over the long term, so it might be a reasonable option for AIMAH in addition to adrenalectomy. [ncbi.nlm.nih.gov]

Consequently, the clinical consequences of CAHs arise from an insufficiency of certain corticosteroids and excesses of others. 21-hydroxylase Deficiency Biochemistry Defects of 21-hydroxylase prevent synthesis of aldosterone and cortisol. [pathwaymedicine.org]

Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. John Wiley and Sons. pp. 600–. ISBN 978-1-4051-9087-9. Retrieved 14 June 2010. Richard D. McAnulty, M. [en.wikipedia.org]

With illness, corticosteroid dosages are increased (typically doubled or tripled) to prevent adrenal crisis. Mineralocorticoid replacement is not adjusted. [merckmanuals.com]

The aim is to prevent neonatal death, determine the sex and prevent precocious puberty. Since neonatal screening was introduced in Sweden, more children have been diagnosed with the salt-wasting form of the condition, and more have survived ( 2 ). [tidsskriftet.no]