Nonclassic congenital adrenal hyperplasia

Witchel, Selma F.

doi:10.1097/med.0b013e3283534db2

Cited by 38 publications

(25 citation statements)

References 70 publications

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“…Treatment goals include normal linear growth velocity and "on-time" puberty in affected children. In adolescent and adult females treatment is aimed at regularization of menses, amelioration of hirsutism, acne, and alopecia, and restoration of fertility [49]. A consensus now recommends that hydrocortisone be used in the treatment of children with CAH, rather than longacting glucocorticoids like dexamethasone [50][51][52][53][54].…”

Section: Discussionmentioning

confidence: 99%

Effect of Vitamin D in a Patient With Classical Adrenal Hyperplasia due to 11-Hydroxylase Deficiency

Thomas

2013

J Med Cases

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Both classical and non-classical CAH, like PCOS, are characterized by insulin resistance (IR) and are also ameliorated by measures which reduce IR. Vitamin D supplementation reduces IR and ameliorates PCOS in Vitamin D deficient/insufficient (VDDI) patientsraising the question: would Vitamin D replacement also ameliorate CAH? Our patient is a 47 year old man with Type 2 diabetes (Type 2 DM) and hypertension hospitalized for cellulitis, abscess, osteomyelitis, and gangrene of the left foot. He was not taking any known insulin sensitizers, and denied any history of acne or hyperpigmentation. The patient has no progeny and never had intercourse due to issues concerning his phallus size. He had hypospadias and micropenis at birth. The former was surgically corrected in childhood. His BMI = 36.45 kg/m 2 with a central fat distribution. On physical examination there was no acanthosis nigricans or hyperpigmentation. He had a stage IVa Hamilton male pattern alopecia that started during his early 20s. He had micropenis (or clitoromegaly), measuring 1.5 -2cm when flaccid; scrotum (or scrotalized labia majora) was normal in size. Testes is measured 3.4 cm in their long diameter and were firm. On 12-4-2012 his serum 11-deoxycortisol by liquid chromatography tandem mass spectrometry (LC MS/MS) was 2024 ng/dL ( ≤ 76) while his serum 25-OH-vitamin D by LC MS/ MS was 12 ng/mL( ≥ 30), and his 1,25 (OH)2-Vitamin D3 by LC MS/MS was ≤ 8 pg/mL (18 -72). Supplementation was begun with ergocalciferol 50,000 units orally weekly. Nine days later his serum 11-deoxycortisol fell to 425 ng/dL, while serum 25-OH-Vitamin D rose to 23 ng/mL, and serum 1,25-(OH)2-Vitamin D3 remained ≤8 pg/mL. Seventeen days later his serum 11-deoxycortisol was 194 ng/dL, while his serum 25-OH-Vitamin D was 27 ng/mL, and his 1,25-(OH)2-vitamin D3 remained ≤ 8 pg/mL. 28 days after starting supplementation with ergocalciferol the 11-deoxycortisol was < 20ng/dL. The laboratory lost the corresponding sample for Vitamin D metabolites. His lymphocyte karyotype was XY. He refused any biopsies, which might have disclosed mosaicism.Vitamin D might be a means of treating classical 11-hydroxylasedeficiency in patients with a VDDI co-morbidity and suggest that it may work by reducing IR.

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Section: Discussionmentioning

confidence: 99%

Effect of Vitamin D in a Patient With Classical Adrenal Hyperplasia due to 11-Hydroxylase Deficiency

Thomas

2013

J Med Cases

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“…Blood sampling was taken at 30 and 60 minutes after ACTH injection, for determination of serum 17-OHP level. The cases with peak 17-OHP level between 4-10 ng/ml and above 10 ng/ ml were classified as heterozygote congenital adrenal hyperplasia (HCAH) and non-classical CAH (NCAH) respectively [7,13]. Toshiba Aplio 300 ultrasound system was used by the same radiologist for pelvic ultrasound (US) examinations.…”

Section: Methodsmentioning

confidence: 99%

“…21-hydroxylase deficiency is a common autosomal recessive disorder of adrenal steroid synthesis. Other steroidogenic enzyme deficiencies such as 11β-hydroxylase and 3β-hydroxysteroid dehydrogenase are rare in hirsutism [7]. Idiopathic hirsutism (IH), defined as regular ovulation with normal adrenal function and androgen levels, is a relatively common cause of hirsutism.…”

Section: Introductionmentioning

confidence: 99%

Etiologic Factors and Clinical Characteristics of Turkish Adolescent Girls Diagnosed with Hirsutism

Parlak¹

2016

Ann Clin Anal Med

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Anahtar KelimelerTürk; Adolesan; Kız; Hirsutizm Abstract Aim: Hirsutism is the male type terminal hair growth in androgen sensitive body areas of the female gender. There is a limited number of studies that involves only hirsutic adolescents. In this study, clinical and laboratory characteristics of hirsutism in Turkish adolescents were evaluated. Material and Method: 174 hirsutic adolescent girls were assessed for menarche age, menstruation cycle, family history, body mass index z-scores, modified FerrimanGallwey (mFG) scores, hair development and distributions and laboratory findings. Results: Mean age was 15.4±1.5 years. The cases were identified as polycystic ovary syndrome (PCOS) 57.4%, idiopathic hirsutism (IH) 29.3% and adrenal hirsutism (AH) 13.2%. The mean ages, hair development onset and menarche ages of the groups were similar. Mild, moderate and severe hirsutism were determined in 132, 39 and 3 cases respectively. Maximum hair development was observed at the thigh, upper arm and lower back areas; minimum hair development was observed in the upper abdomen, upper back and chest areas., The menstrual irregularity, obesity and LH/FSH ratio were significantly higher while SHBG was significantly lower in the PCOS. Discussion: PCOS is the most frequent reason for adolescent hirsutism with menstrual irregularity, mild hair growth and obesity. Regular menstruation suggests firstly idiopathic hirsutism. mFG score values of the thigh, upper arm and lower back areas may provide a preunderstanding for hirsutism. Upper lip area's where frequent epilation is applied may be deceptive concerning scoring.

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“…The remaining 25% have the simple virilizing form of disease which is less severe. Non-classical CAH is generally late onset with symptoms such as hirsutism, infertility, acne and alopecia arising from androgen excess [4]. Untreated babies with classic CAH could experience a life threatening adrenal crisis.…”

Section: Introductionmentioning

confidence: 99%

A Descriptive Study on Children with Congenital Adrenal Hyperplasia Attending Assiut University Children Hospital

Bakhit¹,

Mohammad²,

Metwalley³

2017

JCME

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Introduction: Congenital adrenal hyperplasia is a group of autosomal recessive disorders that result from the deficiency of one of several enzymes involved in the steroidogenic pathway for cortisol biosynthesis. The most common cause of CAH, accounting for 90% of cases, is 21-hydroxylase deficiency resulting from mutations or deletions in the CYP21A gene [1]. Less common causes of CAH are deficiencies in the enzymes 11β-hydroxylase, 3β-hydroxysteroid dehydrogenase, 17α-hydroxylase, steroidogenic acute regulatory protein, cholesterol sidechain cleavage enzyme and P450-oxidoreductase [2]. The symptoms of disease vary depending on the nature and severity of the enzyme deficiency as well as the sex of the individual. Approximately 75% of infants with classical CAH have the severe salt-wasting form of the disease with shock, dehydration, hyponatremia, and hyperkalemia leading to death [3]. Affected females have varying degrees of virilization of the external genitalia. The remaining 25% have the simple virilizing form of disease which is less severe. Non-classical CAH is generally late onset with symptoms such as hirsutism, infertility, acne and alopecia arising from androgen excess [4]. Untreated babies with classic CAH could experience a life threatening adrenal crisis. However, treatment in the form of replacement hormone therapy (hydrocortisone or dexamethasone to replace cortisol and fludrocortisone to replace aldosterone) corrects the hormone deficiencies [3]. Life-long medication is required to prevent the return of symptoms in individuals with classic CAH. In addition, newborns with ambiguous genitalia in CAH should undergo an appropriate work-up by a medical team consisting of a pediatric endocrinologist, urologist, surgeon, geneticist, and psychologist who should assist parents in making fully informed decisions regarding gender assignment and treatment options such as genital reconstructive surgery [5].Patients and methods: A descriptive study included children from 1 day to 18 years of age with congenital adrenal hyperplasia attending Assiut University Children Hospital over one year in the period from the 1st of June, 2016 to the 30th of May, 2017. Full thorough history and clinical examination were done to all cases: name, age, sex, residence, consanguinity, history of similar cases in the family, history of previous death due to neglected similar disease, methods of presentation as poor weight gain, poor feeding, persistent vomiting, dehydration and/or shock, convulsions, weight, height, blood pressure, signs of ambiguous genitalia, signs of dehydration, hyperpigmentation and signs of precocious puberty. All cases had been subjected to the following investigations: blood sugar, Na+, K+, blood gases, kidney function tests, karyotyping, hormonal analysis(17 OH progesterone, cortisol a.m and p.m testosterone, ACTH), pelvi-abdominal ultrasonography and magnetic resonanse imaging of the abdomen and pelvis.Results: 34 cases of congenital adrenal hyperplasia were included, of whom 8 cases were newly d...

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Nonclassic congenital adrenal hyperplasia

Cited by 38 publications

References 70 publications

Effect of Vitamin D in a Patient With Classical Adrenal Hyperplasia due to 11-Hydroxylase Deficiency

Effect of Vitamin D in a Patient With Classical Adrenal Hyperplasia due to 11-Hydroxylase Deficiency

Etiologic Factors and Clinical Characteristics of Turkish Adolescent Girls Diagnosed with Hirsutism

A Descriptive Study on Children with Congenital Adrenal Hyperplasia Attending Assiut University Children Hospital

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