IntroductionOsteoporosis in children is rare and usually secondary to an underlying disease process whose diagnosis may be difficult to detect. Etiological factors responsible for osteoporosis secondary to chronic illness include immobility, pubertal delay and other hormonal disturbances. Rarely, it can be a manifestation of acute lymphoblastic leukemia. Most of the reported bone fracture incidences associated with acute lymphoblastic leukemia occur during the course of the chemotherapy, not at the point of the first symptoms of leukemic disease, as happened with the case presented here.Case presentationA 7-year-old Asian Balinese boy presented with back pain. His anteroposterior pelvic radiograph showed osteoporotic bone. A bone age study revealed growth failure of his metacarpals, phalanges and sesamoid. His total bone mass density was 97% age-match. However, a peripheral blood smear showed normochromic anemia with thrombocytopenia. Immunophenotyping of his peripheral blood revealed no dominant markers, but a bone marrow aspiration confirmed a diagnosis of acute lymphoblastic leukemia.ConclusionsOsteoporosis was the only manifestation of the child’s underlying acute lymphoblastic leukemia. Leukemia was diagnosed when his bone marrow was found to contain more than 25% blasts. Because of leucopenia, the immunophenotype failed to reveal a dominant marker in this case, thus we were unable to classify the acute lymphoblastic leukemia.
Osteoporosis merupakan salah satu efek samping tersering pada penggunaan kortikosteroid jangka panjang, namun masih sedikit mendapat perhatian. Kortikosteroid dapat menginduksi osteoporosis dalam 6-12 bulan pertama pemakaian melalui mekanisme langsung maupun tidak langsung. Osteoporosis harus selalu dipikirkan pada anak yang menggunakan kortikosteroid jangka panjang dengan fraktur setelah trauma minimal atau tanpa trauma, nyeri tulang kronik, dan gambaran radiografi menunjukkan penipisan tulang. Efek samping ini dapat dihindari dengan pembatasan dosis kortikosteroid pada dosis minimal yang masih efektif dan mempertahankan nutrisi yang berperan dalam pembentukan tulang seperti kalsium, vitmin D, protein, dan magnesium. Suplementasi kalsium dan vitamin D memiliki efek moderat terhadap penipisan masa tulang, perlu dipertimbangkan pada penggunaan kortikosteroid jangka panjang.
Latar belakang: kriptorkismus merupakan kelainan organ seksual lelaki yang seringditemukan. Sampai berapa tahun terapi hormonal dan pembedahan dilakukan masihkontroversial.Tujuan: penelitian ini bertujuan untuk mengetahui umur saat berobat pertama kali, asalrujukan, lokasi testis, peran perabaan, penyakit penyerta, dan peran terapi hormonalpada kriptorkismus.Cara kerja: Penelitian dilakukan secara retrospektif dari semua pasien baru yang didiagnosiskriptorkismus di Poliklinik Endokrinologi Anak RSCM selama 5 tahun (Januari 1998 –Desember 2002).Hasil: diteliti 63 pasien baru, 58 pasien diantaranya dengan kriptorkismus murni, dan 5 pasientestis retraktil. Didapat 22,4% kriptorkismus bilateral, 77,6% kriptorkismus unilateral,kriptorkismus kanan dan kiri jumlahnya hampir sama. Pasien yang dirujuk oleh spesialis anak33,3%. Umur pertama datang di poliklinik 9 bulan-2 tahun 24,1%, dan >2 tahun 56,9%.Pada perabaan, lokasi testis paling banyak tak teraba 74,1%, setelah dikonfirmasi dengan USG75% hasilnya sama dengan perabaan. Kriptorkismus disertai skrotum bifidum dan hipospadia12,6%, mikropenis 11,1%, sindrom Prader Willi, sindrom Noonan, sindrom Kallmann masingmasing1,6% dan merupakan penyakit dasar kriptorkismus. Keberhasilan Terapi hormonal65% ( inguinal 77,8% dan pada testis tak teraba 50%) , terapi dimulai sejak umur 9 bulan.Kesimpulan: sebagian besar pasien datang pada umur >2 tahun, sedangkan terapihormonal dimulai pada umur 9 bulan dengan keberasilan 65%. Pemeriksaan fisik samaakurat dibandingkan dengan pemeriksaan USG. Terapi hormonal pada kriptorkismusumur 6 bulan - 2 tahun masih efektif sebelum terapi bedah dilakukan.
5-alpha-reductase (5-ARD) type 2 deficiencyis an autosomal sex-linked disorder, resulting inthe inability to convert testosterone to the morephysiological active dihydrotestosterone (DHT).DHT is the most potent androgen, bound selec-tively to the androgen receptors in genital skin andfibroblasts, making its action necessary for the de-velopment of normal male genital anatomy. SinceDHT is required for normal masculinizaton of theexternal genitalia in utero, genetic males with 5-ARD are usually born with ambiguous genitalia(male pseudohermaphroditism). The hallmarkof 5-ARD is elevated ratio of serum testosteroneto DHT. In healthy prepubertal children, thebaseline testosterone-to-DHT ratio is 1:2. Thispaper reports a 20-month old patient with malepseudohermaphroditism due to 5-alpha reductasetype-2 deficiency.
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