Long-Term Outcome of Patients With Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency

Mnif, Mouna; Kamoun, Mahdi; Mnif, F.; Charfi, Nadia; Kallel, N.; Naceur, B. Ben; Rekik, N.; Abid, M.; Mnif, Z.; Sfar, M.H.; Sfar, Mohamed Tahar; Hachicha, M.; Keskes, Leila

doi:10.1097/maj.0b013e31824369e4

Cited by 38 publications

(42 citation statements)

References 49 publications

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“…Additionally, various studies have shown that vitamin D supplementation in conditions that are associated with IR, such as diabetes type 2, metabolic syndrome, PCOS, and hepatitis C, may be beneficial [29][30][31][32]41]. In recent years, it has also been reported that CAH is also associated with IR [6,[42][43][44][45][46].…”

Section: Discussionmentioning

confidence: 96%

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: 96%

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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“…Pubertas terlambat dapat terjadi akibat hiperandrogen yang memengaruhi aksis hipotalamushipofisis-gonad sehingga menyebabkan siklus ovulasi ireguler dan terbentuknya kista ovarium. [1][2][3][4] Pada penelitian ini, tidak ada subjek yang mengalami pubertas terlambat.…”

Section: Hasilunclassified

“…21 Anak HAK dengan kontrol metabolik yang buruk juga cenderung mempunyai tinggi akhir yang lebih pendek. 4,22 Tinggi akhir yang berkurang dengan disertai peningkatan berat badan akan meningkatkan nilai IMT.…”

Section: Hasilunclassified

“…Pemantauan terhadap penyakit dan efek samping terapi jangka panjang sangat diperlukan. [1][2][3][4] Sekitar 45% anak HAK mengalami gizi lebih, 16% mengalami obesitas. Volkl dkk 5 meneliti 89 anak HAK berusia 0,2-17,9 tahun dan mendapatkan indeks massa tubuh (IMT) berada pada rerata nilai simpang baku 0,88, secara signifikan berada di atas 0.…”

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“…Penyebab obesitas pada HAK bersifat multifaktorial, berkaitan dengan terapi glukokortikoid, kepatuhan pengobatan, usia kronologis, keterlambatan usia tulang, kadar leptin serum, penurunan tinggi akhir, obesitas orangtua, dan faktor umum lainnya. [4][5][6][7] Obesitas meningkatkan risiko penyakit kardiovaskular dan sindrom metabolik. 5,8,9 Di Indonesia, belum terdapat data mengenai prevalensi gizi lebih dan obesitas pada anak HAK dan faktor yang terkait, baik dari segi penyakit, terapi, dan faktor umum.…”

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Profil Klinis dan Terapeutik Anak Hiperplasia Adrenal Kongenital Terkait Gizi Lebih dan Obesitas

Susanti

Batubara

Advani

2016

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Latar belakang. Obesitas pada anak hiperplasia adrenal kongenital (HAK) dapat terjadi akibat penyakit dan terapi glukokortikoid. Di Indonesia, belum diketahui prevalensi gizi lebih dan obesitas pada anak HAK serta faktor-faktor yang berhubungan.Tujuan. Mengetahui prevalensi gizi lebih dan obesitas anak HAK dan faktor yang berhubungan (faktor penyakit, faktor terapi, dan faktor umum).Metode. Uji potong lintang pada anak HAK yang berobat di RSCM dan RS lain di Jabodetabek selama Maret-Juni 2013. Pencatatan data klinis, analisis diet, dan pemeriksaan kadar 17-hidroksiprogesteron (17-OHP) dilakukan pada setiap subjek.Hasil. Empatpuluh sembilan subjek-38 perempuan dan 11 laki-laki, rentang usia 0,4-18,3 tahun-memenuhi kriteria inklusi dan eksklusi. Subjek tipe salt wasting (SW) 79,6% dengan median usia awal terapi 2,5 tahun lebih muda dibandingkan kelompok non-SW. Rerata dosis hidrokortison 17,2 (SB 6,4) mg/m2/hari dan median durasi terapi 5,7 (rentang 0,1-18,3) tahun. Sebagian besar subjek memiliki kontrol metabolik undertreatment (36/49) dengan median kadar 17-OHP 19 (rentang 0,2-876) nmol/L. Terdapat 19 subjek sudah pubertas, 6 di antaranya mengalami pubertas prekoks. Ditemukan prevalensi gizi lebih dan obesitas 5,3% pada kelompok usia balita dan 66,7% usia lebih dari 5 tahun. Subjek memiliki asupan gizi lebih dari 62,5%. Subjek dengan usia lebih dari 5 tahun, sudah pubertas, atau mengalami pubertas prekoks lebih berisiko mengalami gizi lebih dan obesitas. Durasi terapi glukokortikoid berkorelasi sedang (r=0,668; p=0,000) dengan indeks massa tubuh (IMT), sedangkan dosis terapi tidak menunjukkan korelasi dengan IMT.Kesimpulan. Prevalensi gizi lebih dan obesitas pada anak HAK adalah 42,9%. Subjek dengan usia lebih dari 5 tahun, sudah pubertas, atau mengalami pubertas prekoks lebih berisiko mengalami gizi lebih dan obesitas. Terdapat korelasi sedang antara durasi terapi glukokortikoid dengan IMT

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The Role of the Adrenal Glands in the Hyperandrogenism Associated with Polycystic Ovarian Syndrome

Freeman

2013

Polycystic Ovary Syndrome

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Long-Term Outcome of Patients With Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency

Cited by 38 publications

References 49 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

Profil Klinis dan Terapeutik Anak Hiperplasia Adrenal Kongenital Terkait Gizi Lebih dan Obesitas

The Role of the Adrenal Glands in the Hyperandrogenism Associated with Polycystic Ovarian Syndrome

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