Perianal hair as an unusual presentation of non-classical congenital adrenal hyperplasia

Gopal‐Kothandapani, Jaya Sujatha; Petkar, Anjali; O’Shea, Elaine; Banerjee, Indraneel

doi:10.1136/bcr-2013-010123

Cited by 2 publications

(5 citation statements)

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“…Increased androgen levels constitute the main basis of the clinical symptoms, but mild cortisol deficiency can also occur in some cases. Clinical findings include labial adhesion, perianal hair, clitoromegaly, increased penile length with prepubertal testicular volume, increased bone age, premature pubarche (development of pubic and axillary hair before the age of 8 and 9 for girls and boys, respectively), axillary apocrine odor, precocious puberty, greasy hair, acne, prepubertal gynecomastia, diffuse hair loss in centro-parietal and/or fronto-temporal regions, hoarseness of voice, menstrual irregularities (oligomenorrhea, anovulation, dysfunction), hirsutism, abortions, infertility in both genders, adrenal rest tumors, and short height according to midparental target height (11,12,13,14,15). In a prospective longitudinal study of Swedish children from birth to 18 years, it was demonstrated that permanent teeth eruption occurred at a mean age of 5.7+0.52 in these patients (16).…”

Section: Introductionmentioning

confidence: 99%

“…The consensus regarding basal 17-OHP concentration for ACTH test indication is reported as 2 ng/mL. A basal 17-OHP level over 5 ng/mL is regarded as a quite high value (14). NCCAH was found in 4.2% of 238 French children with premature adrenarche and it was understood that a basal 17-OHP level over 2 ng/mL demonstrates 100% sensitivity and 99% specificity (36).…”

Section: Introductionmentioning

confidence: 99%

“…Since the most common type is 21-OH, CYP21A2–CYP21A1P mutations are generally investigated. Null 12 G splice, 1172N, P3OL, V28IL, P453S.Int2 mutations are observed most commonly and they are positive in 73-87% of the cases (14,22,34,47). NCCAH phenotype is detected in 98 % of the cases with mutation V28IL.…”

Section: Introductionmentioning

confidence: 99%

“…However, if an increase in levothyroxine or hyperthyroidism occurs, adrenal crisis may arise as the result of increased clearance of cortisol (57). In cases with hirsutism, treatment with oral contraceptive agents leads to an increase in SHBG production in the liver, to a decrease in androgen release from the ovary, and consequently to improvement in menstrual irregularity (14). If necessary, anti-androgens (spironolactone, flutamide, cyproterone acetate, or finasteride) may be added to the treatment.…”

Section: Introductionmentioning

confidence: 99%

“…In NCCAH cases, a series of problems such as acne, oligomenorrhea, hirsutism, abortion-stillbirth, deep voice in women, infertility, impaired life quality, psychiatric problems (psychosis, suicide, alcohol use, drug use), decrease in bone density, fractures, obesity, dyslipidemia, insulin resistance, diabetes, increase in the thickness of intima media, hypertension, cardiovascular problems, early mortality risk, and tumorigenesis risk may arise (14,59). Although testicular adrenal rest tumors are observed in classical CAH cases, it is reported that they may also occur in NCCAH cases (60).…”

Section: Introductionmentioning

confidence: 99%

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Non-Classical Congenital Adrenal Hyperplasia in Childhood

Kurtoğlu¹,

Hatipoğlu

2017

Jcrpe

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Congenital adrenal hyperplasia (CAH) is classified as classical CAH and non-classical CAH (NCCAH). In the classical type, the most severe form comprises both salt-wasting and simple virilizing forms. In the non-classical form, diagnosis can be more confusing because the patient may remain asymptomatic or the condition may be associated with signs of androgen excess in the postnatal period or in the later stages of life. This review paper will include information on clinical findings, symptoms, diagnostic approaches, and treatment modules of NCCAH.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Non-Classical Congenital Adrenal Hyperplasia in Childhood

Kurtoğlu¹,

Hatipoğlu

2017

Jcrpe

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Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach

Livadas

Bothou

2019

Front. Endocrinol.

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Non-classical congenital adrenal hyperplasia (NCCAH) is considered to be a common monogenic inherited disease, with an incidence range from 1:500 to 1:100 births worldwide. However, despite the high incidence, there is a low genotype-phenotype correlation, which explains why NCCAH diagnosis is usually delayed or even never carried out, since many patients remain asymptomatic or are misdiagnosed as suffering from other hyperandrogenic disorders. For affected adolescent and adult women, it is crucial to investigate any suspicion of NCCAH and determine a firm and accurate diagnosis. The Synacthen test is a prerequisite in the event of clinical suspicion, and molecular testing will establish the diagnosis. In most cases occurring under 8 years of age, the first symptom is premature pubarche. In some cases, due to advanced bone age and/or severe signs of hyperandrogenism, initiation of hydrocortisone treatment prepubertally may be considered. Our unifying theory of the hyperandrogenic signs system and its regulation by internal (hormones, enzymes, tissue sensitivity) and external (stress, insulin resistance, epigenetic, endocrine disruptors) factors is presented in an attempt to elucidate both the prominent genotype-phenotype heterogeneity of this disease and the resultant wide variation of clinical findings. Treatment should be initiated not only to address the main cause of the patient's visit but additionally to decrease abnormally elevated hormone concentrations. Goals of treatment include restoration of regular menstrual cyclicity, slowing the progression of hirsutism and acne, and improvement of fertility. Hydrocortisone supplementation, though not dexamethasone administration, could, as a general rule, be helpful, however, at minimum doses, and also for a short period of time and, most likely, not lifelong. On the other hand, in cases where severe hirsutism and/or acne are present, prescription of oral contraceptives and/or antiandrogens may be advisable. Furthermore, women with NCCAH commonly experience subfertility, therefore, there will be analysis of the appropriate approach for these patients, including during pregnancy, based mainly on genotype. Besides, we should keep in mind that since the same patient will have changing requirements through the years, the attending physician should undertake a tailor-made approach in order to cover her specific needs at different stages of life.

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Perianal hair as an unusual presentation of non-classical congenital adrenal hyperplasia

Cited by 2 publications

References 1 publication

Non-Classical Congenital Adrenal Hyperplasia in Childhood

Non-Classical Congenital Adrenal Hyperplasia in Childhood

Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach

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