Of these individuals, 17 presented in the neonatal period and early infancy, of which four had an additional salt-losing crisis. [ncbi.nlm.nih.gov]

[…] large number of late presentations. [hkmj.org]

• Fatigue

  MEASUREMENTS: The subjects rated degree of hoarseness, dark voice, voice problems and vocal fatigue on visual analogue scales. Audio recordings were made of a standard reading passage in a sound treated booth. [ncbi.nlm.nih.gov]

  […] through down-regulation of CRH receptors in the pituitary, resulting in lower ACTH and cortisol secretion. 35,36 Hypoactivity of the HPA axis has been described in several physical and psychiatric disorders, including atypical depression, PTSD, chronic fatigue [hormones.gr]

• Failure to Thrive

  In the most severe "salt wasting" form of CAH (~75% of severe or "classic" cases), concomitant aldosterone deficiency may lead to salt wasting with consequent failure to thrive, hypovolemia, and shock. [ncbi.nlm.nih.gov]

  This condition usually manifests as difficulty in feeding and failure to thrive in early weeks of life. [ispub.com]

  Complete enzyme deficiency leads to classic Salt-Wasting (SW) is form presenting as failure to thrive, vomiting, hyperkalaemia, dehydration and shock. [austinpublishinggroup.com]

  Other causes of failure to thrive. Other causes of infertility. Polycystic ovary syndrome. Investigations [ 4 ] Renal function, electrolytes and blood glucose: hyponatraemia, hyperkalaemia and hypoglycaemia suggest possible adrenal insufficiency. [patient.info]

  Approximately 75% of patients with this classic form of CAH have an additional mineralocorticoid deficiency leading to salt-wasting, failure to thrive or even hypovolaemic shock. 1 Mild forms of CAH present, typically, later in life with a variable degree [hkmj.org]

• Abdominal Pain

  Abdominal palpation elicited moderate pain in the epigastrium, but no masses were detected. There was cutaneous hyperpigmentation, not only in sun-exposed areas but also in the axillary and genital areas and gingiva. [jmedicalcasereports.biomedcentral.com]

• Persistent Vomiting

  In the previous three days he was feeling extremely tired, had persistently vomited and had epigastric pain. At admission he was dehydrated and hypotensive (blood pressure 95/48mmHg). He weighed 73kg (height 173cm; body mass index 24.4kg/m 2 ). [jmedicalcasereports.biomedcentral.com]

• Diastolic Hypotension

  CONCLUSIONS: Our data show altered 24-h blood pressure profiles with elevated systolic levels correlated with the degree of overweight and obesity, whereas normal-weight patients tended to diastolic hypotension. [ncbi.nlm.nih.gov]

  Table 2 Summary of studies on cardiovascular consequences in CAH patients Increased BMI correlates with elevated systolic blood pressure and CAH patients with normal weight presented with a tendency to diastolic hypotension, but preserved nocturnal dip [karger.com]

• Hemianopsia

  Whereas the first patient recovered without neurological sequelae the second patient showed hemianopsia and spastic hemiplegia in the neurological follow-up examination. [ncbi.nlm.nih.gov]

• Normal Stature

  Abstract During childhood, the main aims of the medical treatment of congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency, are to prevent salt loss and virilization and to achieve normal stature and normal puberty. [ncbi.nlm.nih.gov]

  During childhood, the main aims of the medical treatment of CAH secondary to 21-hydroxylase defect are to prevent salt loss and virilization, to achieve normal stature and to undergo normal puberty [ 5 ]. [em-consulte.com]

  Normalization of PRA also resulted in improved statural growth in these patients, a finding that has been corroborated in subsequent reports. 183, 184 Serum 17-OHP and Δ 4 -A concentrations determined by radioimmunoassay provide a sensitive index of biochemical [glowm.com]

• Lordosis

  Psychosexual development and issues [ edit ] Nearly all mammals display sex-dimorphic reproductive and sexual behavior (e.g., lordosis and mounting in rodents ). [en.wikipedia.org]

• Alopecia

  Virilisation : deepened voice, small breasts, increased muscle bulk, enlarged clitoris, increased libido Accelerated bone age Absent or irregular menstrual periods Male pattern of hair growth ( hirsutism ) Oily skin ( seborrhoea ) Acne Androgenetic alopecia [dermnetnz.org]

• Chordee

  Stage 4 looks more male than female, with an empty scrotum and a phallus the size of a normal penis, but not quite free enough of the perineum to be pulled onto the abdomen toward the umbilicus (i.e., what is termed a chordee in a male). [en.wikipedia.org]

A 39-year-old male patient presented for workup of infertility. Urologic investigation revealed small testes, bilateral testicular masses, and asthenozoospermia. [ncbi.nlm.nih.gov]

[…] 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]

Long-term glucocorticosteroid treatment is also a known risk factor for osteoporosis. [ncbi.nlm.nih.gov]

In children with CAH who have a poor height prognosis, additional treatment options should be considered. CONCLUSIONS: Treatment of children with CAH requires individualized approaches to prevent long-term growth failure. Copyright (c) 2007 S. [ncbi.nlm.nih.gov]

Prognosis With adequate medical and surgical therapy, the prognosis is good. However, problems with psychological adjustment are common and usually stem from the genital abnormality that accompanies some forms of congenital adrenal hyperplasia. [emedicine.medscape.com]

The diagnosis in early period of life has better prognosis. The usual presentation is failure to thrive, hyperkalemia, hyponatremia and features of hyperandrogenism [1]. [ispub.com]

Patients with non-classic CAH have a more favourable height prognosis than those with the classic form. Obesity, insulin resistance and hypertension are all more common in patients with CAH, raising the risk of cardiovascular disease. [patient.info]

[…] deficiency generally have ambiguous genitalia or female genitalia; they may be raised as girls and seek medical attention later in life because of hypertension or a lack of breast development Other findings Patients with aldosterone deficiency of any etiology [emedicine.medscape.com]

Here we briefly describe the pathophysiology, clinical picture, genetics and epidemiology of 21-OHD. This is followed by a comprehensive review of the recent advances in diagnosis, treatment and outcome. [ncbi.nlm.nih.gov]

Obstetricians & Gynecologists, Family Physicians After completion of this article, the reader should be able to recall the epidemiology of carrier status for 21-hydroxylase deficiency, identify phenotypic characteristics for classic and non-classic congenital [doi.org]

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]

An increase in the understanding of the genotype-phenotype correlation suggests, however, that 21-hydroxylase deficiency may be a continuum of phenotypes rather than a number of distinct phenotypical entities. [ 3 ] Epidemiology [ 4 ] A study found that [patient.info]

Here we briefly describe the pathophysiology, clinical picture, genetics and epidemiology of 21-OHD. This is followed by a comprehensive review of the recent advances in diagnosis, treatment and outcome. [ncbi.nlm.nih.gov]

This review addresses five questions concerning the pathophysiology and treatment of congenital adrenal. .. [nejm.org]

Congenital adrenal hyperplasia, which also dates to the first half of the century, has become the preferred term to reduce ambiguity and to emphasize the underlying pathophysiology of the disorders. [en.wikipedia.org]

Most of the case reports in the literature suggest uneventful perioperative period, giving importance to proper history and physical examination, and children with CAH can be managed successfully during anaesthesia after understanding the pathophysiology [ispub.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test The cause of congenital adrenal hyperplasia (CAH) is an inherited genetic defect that results in decreased formation of 1 of [mayomedicallaboratories.com]

These are 2 children with CAH, both treated prenatally with high doses of dexamethasone to prevent virilization. [ncbi.nlm.nih.gov]

The goals of CAH screening are early detection of the severe, salt-wasting form, therefore prevention of adrenal crisis or death, early detection of the simple virilizing form, and prevention or shortening of the period of incorrect gender assignment [mdpi.com]

To prevent this, all persons taking replacement glucocorticoids are taught to increase their doses in the event of illness, surgery, severe injury, or severe exhaustion. [en.wikipedia.org]