Presentation
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]
Patients with AIMAH tend to present 10 years earlier on average than the time of presentation of classic Cushing disease. The age of presentation usually ranges around 40-50 years. [radiopaedia.org]
[…] in nodules (“endocrine atypia”) Small micronodules may be present near central vein, containing lipid-laden clear cells similar to zona fasciculata Microscopic (histologic) images Images hosted on other servers: Diffuse hyperplasia Lipomatous metaplasia [pathologyoutlines.com]
Entire Body System
- Virilization
CONCLUSIONS: PNAH was associated with cushingoid features, virilization and hypertension with a lack of cortisol suppression on high DST, undetectable plasma ACTH and absent cortisol and ACTH responses to CRH. [ncbi.nlm.nih.gov]
Adrenal virilism is confirmed by showing elevated levels of adrenal androgens. [msdmanuals.com]
This causes excessive production of androgens, resulting in virilization. [humpath.com]
[…] hyperplasia, virilizing, salt-losing Late onset congenital adrenal hyperplasia Steroid 21-monooxygenase deficiency, simple virilizing type Undervirilized xy, 3-beta hydroxysteroid deficiency Undervirilized xy, congenital adrenal hyperplasis, Clinical [icd10data.com]
- 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]
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]
◦ Depending on the enzymatic step that is deficient, there may be signs, symptoms, and laboratory findings of mineralocorticoid deficiency or excess ◦ Incomplete virilization or precocious puberty in affected males ◦ virilization or sexual infantilism [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 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]
- Pain
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]
In the last 2 years, abdominal and left lumbar pain appeared. Abdominal ultrasound reported enlarged adrenals and the CT-scan showed bilateral adrenal masses of 16 cm at right and 24 cm at left (large diameter), with features of myelolipomas. [postertalks.com]
In advanced, long-standing tumors, testis-sparing surgery has not been shown to reverse infertility but may improve pain. Stephanie L. [healio.com]
These TARTs can become large and cause pain in addition to impaired testicular function. Treatment of the TARTs with intensified glucocorticoid replacement may cause regression and restoration of normal sperm counts [ 55 ]. [ijpeonline.biomedcentral.com]
- Accelerated Growth
Premature pubarche can be seen in children as well as accelerated growth velocity and accelerated skeletal maturation (leading to short stature in adulthood). NCAH is often not diagnosed until adolescence when the first symptoms appear. [orpha.net]
[…] folds and a phallic urethra to clitoromegaly, partial fusion of the labioscrotal folds, or both Females with mild 21-hydroxylase deficiency are identified later in childhood because of precocious pubic hair, clitoromegaly, or both, often accompanied by accelerated [emedicine.medscape.com]
acceleration in childhood, but as adults were short for mid-parental height. [glowm.com]
Gastrointestinal
- Vomiting
Failure to do this could cause death when your child is vomiting, or has diarrhoea. [betterhealth.vic.gov.au]
If undiagnosed and untreated, this form can lead to life-threatening adrenal crisis, with vomiting, diarrhea, hypoglycemia, hypovolemia, and shock. [merckmanuals.com]
He died in his 40s after many episodes of vomiting, diarrhea, and prostration. [encyclopedia.com]
Poor feeding or vomiting Dehydration Electrolyte changes (abnormal levels of sodium and potassium in the blood) Abnormal heart rhythm Girls with the milder form will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes) [medlineplus.gov]
◦ Features : ◦ Vomiting ◦ Pigmentation ◦ Abnormal genital appearance ◦ Lethargy ◦ FTT ◦ Shock with ↓ed Urine output. ◦ Biochemical Findings : ◦ Hyponatremia ◦ Hyperkalemia ◦ Hypoglycemia ◦ Metabolic acidosis ◦ Hemoconcentration. 10. ◦ A: Female infants [slideshare.net]
- Diarrhea
Symptoms may include: Dehydration Poor feeding Diarrhea Vomiting Heart rhythm problems (arrhythmias) Low blood pressure Very low blood sodium levels Low blood glucose Too much acid in the blood, called metabolic acidosis (pronounced met-uh-BOL-ik as-i-DOH-sis [nichd.nih.gov]
These signs include: Poor feeding Sleeping longer or more often Tiredness Vomiting Diarrhea Weight loss Irritability Rapid heart rate Male-like genitals in females (described in detail below) Many of these signs are caused by severe dehydration. [babysfirsttest.org]
If undiagnosed and untreated, this form can lead to life-threatening adrenal crisis, with vomiting, diarrhea, hypoglycemia, hypovolemia, and shock. [merckmanuals.com]
For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. [rarediseases.info.nih.gov]
He died in his 40s after many episodes of vomiting, diarrhea, and prostration. [encyclopedia.com]
- Nausea
Their strong tendency to lose excessive amounts of salt in the urine, if uncontrolled, can cause acute dehydration, very low blood pressure, nausea and vomiting. [betterhealth.vic.gov.au]
Hypopituitarism (as above) Opthalmoplegia, cerebrovascular events, second brain tumors are rare complications Medical treatments Ketoconazole: hepatic injury, gynecomastia, gastrointestinal disturbance, edema, skin rash Metyrapone: dizziness, anxiety, nausea [clinicaladvisor.com]
Skin
- 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]
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]
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]
Hirsutism and acne noticeably diminished, however, she still did not conceive despite continuing regular relations without contraception ( Table 1). [intechopen.com]
- Hypertrichosis
She had developed obesity and menopause for 2 years, but no hypertension or hypertrichosis was observed. Although plasma adrenocorticotropin and serum cortisol levels were within normal ranges, the circadian rhythm has completely disappeared. [ncbi.nlm.nih.gov]
Urogenital
- Amenorrhea
Adult females may have amenorrhea, atrophy of the uterus, clitoral hypertrophy, decreased breast size, acne, hirsutism, deepening of the voice, baldness, increased libido, and increased muscularity. [msdmanuals.com]
In affected females, especially those with the salt-wasting form, reproductive function may be impaired as they reach adulthood; they may have labial fusion and anovulatory cycles or amenorrhea. [merckmanuals.com]
0000040 Male pseudohermaphroditism 0000037 Micropenis Short penis Small penis [ more ] 0000054 Neonatal onset 0003623 Precocious puberty in males Early onset of puberty in males 0008185 Premature pubarche Premature pubic hair growth 0012411 Primary amenorrhea [rarediseases.info.nih.gov]
Sex steroid deficiency caused by loss of 17,20-lyase activity results in under virilization in male newborns and in primary amenorrhea in 46XX individuals. [omicsonline.org]
The patient was a 17 year old woman, whose CAH had been diagnosed in the nursery, where she had become profoundly dehydrated, whose current complaints were of amenorrhea, hirsutism, and acne, despite being adherent to optimal glucocorticoid/mineralocorticoid [intechopen.com]
- Dyspareunia
The reasons for their not attempting pregnancy include vaginal abnormalities, such as inadequate caliber for coitus or strictures following repair [ 43 ] and dyspareunia [ 42 ]. [ijpeonline.biomedcentral.com]
Workup
[…] 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]
Other Pathologies
- Adrenocortical Hyperplasia
ACTH independent bilateral macronodular adrenocortical hyperplasia (AIMAH) is associated with autonomous hypercortisolism. [ncbi.nlm.nih.gov]
Treatment
Abstract Experience with the surgical treatment of hypercorticism caused by bilateral adrenocortical hyperplasia in 16 patients is discussed. The treatment of choice is bilateral total adrenalectomy. [ncbi.nlm.nih.gov]
Prognosis
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]
Etiology
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]
Epidemiology
We summarize the recent insights concerning its epidemiology, diagnosis, genetics, pathophysiology, and therapeutic options. [ncbi.nlm.nih.gov]
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]
Pathophysiology
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]
Prevention
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]
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]
With illness, corticosteroid dosages are increased (typically doubled or tripled) to prevent adrenal crisis. Mineralocorticoid replacement is not adjusted. [merckmanuals.com]