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All Journal SAINS MEDIKA : JURNAL KEDOKTERAN DAN KESEHATAN Sari Pediatri Jurnal Medik Veteriner Indonesian Journal of Medicine ACADEMICS IN ACTION Journal of Community Empowerment Journal of the Indonesian Medical Association : Majalah Kedokteran Indonesia JOURNAL OF COMMUNITY MEDICINE AND PUBLIC HEALTH RESEARCH Journal of Applied Data Sciences Folia Medica Indonesiana
Muhammad Faizi, Muhammad
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Humanities Biochemistry, Genetics & Molecular Biology Computer Science & IT Control & Systems Engineering Decision Sciences, Operations Research & Management Economics, Econometrics & Finance Education Engineering Health Professions Medicine & Pharmacology Neuroscience Public Health Social Sciences Veterinary

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Diagnosis and Management of Adrenal Crisis in 46XX Congenital Adrenal Hyperplasia Infant Rochmah, Nur; Faizi, Muhammad; Kusumastuti, Neurinda Permata; Samadhi, Leonardo Ferryanto Mak; Deakandi, Wika Yuli
Folia Medica Indonesiana Vol. 58, No. 3
Publisher : Folia Medica Indonesiana

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Highlight: • The diagnosis and therapy of Congenital Adrenal Hyperplasia (CAH) children with Adrenal crisis (AC) case report. • Adrenal crisis (AC) is a life-threatening emergency that contributes to the high death rate of children with adrenal insufficiency. • The early detection and prompt treatment can improve the outcomes of patients with CAH and AC. Abstract: Adrenal crisis is the acute complication of the patient with congenital adrenal hyperplasia. Congenital adrenal hyperplasia (CAH) is a rare condition. Children with CAH commonly come to the emergency room due to acute complications. The condition has high mortality and thus needs early recognition. Newborn screening for CAH in Indonesia is not routinely performed and has not been suggested yet. The purpose of this case report was to report a case of adrenal crisis in a congenital adrenal hyperplasia patient focused on diagnosis and therapy. A female, 10 months old infant, was admitted to the emergency department with a chief complaint of a decrease of consciousness for 3 hours before admission and frequent vomiting since born. On physical examination, there was clitoromegaly. Laboratory showed 17-OH progesterone: 173 ng/dL (7-77 ng/dL) and karyotyping: 46 XX. Management of adrenal crisis is a stress dose of hydrocortisone and rehydration. Education is the key to optimal outcomes and normal growth and development.
Case Report: Medical Aspect, Growth, and Quality of Life in Children with 46,XX Testicular Disorder of Sex Development (DSD) Rochmah, Nur; Faizi, Muhammad; Andriani, Irwina Rahma; Pasulu, Soraya Salle
Folia Medica Indonesiana Vol. 54, No. 3
Publisher : Folia Medica Indonesiana

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46,XX testicular disorder of sexual development (DSD) is characterized by male phenotype with 46,XX karyotype. The incidence rate is 1:25,000 in male newborn. Infants with ambiguous external genitals will be confronted with issue of gender assigment and may result in a stressful condition in the parents. Since gender assignment is inevitable, several factors should be considered in DSD management. The management approach for children born with DSD is individualized and multidisciplinary. Gender assignment aims to facilitate the patient to obtain the best quality of life. Adaptation of children with 46,XX testicular DSD as a determinant of quality of life is also influenced by psychological and family conditions. The purpose of this report was to observe medical growth and development aspects of the child with 46,XX terticular DSD as indicated by the aspects of growth and development, and health related quality of life, as well as the influential aspects. PA, 18 months, was diagnosed with 46,XX testicular DSD. The patient routinely visited to endocrinology clinic, urologic surgery, and child psychiatry clinic from the age of 6 months. The parents decided to raise patient as male. The patient had undergone surgery for hypospadias correction, hormone injections, child growth monitoring, and psychological monitoring (medical records of Dr. Soetomo Hospital, Surabaya in 2015). Management should consider individual and multidiciplinary accompaniment of the patient and parents, the importance of group support, and follow-up to adulthood, as well as possible longterm outcomes that will occur in the future so that the patients and the parents need to be prepared.
Co-Authors Alfaqih, Muhammad Subhan Alpha Fardah Athiyyah Aman Bhakti Pulungan, Aman Bhakti Anang Endaryanto Andriani, Irwina Rahma Andy Darma Anugrah, Andreas Surya Ardhanariswari, Zubaity Arifa Mustika Badriul Hegar Syarif Basuki, Mudjiani Bermanshah, Evita Karianni Bernie Endyarni Medise Choirunisa, Latifatu Deakandi, Wika Yuli Dwiyanti Puspitasari, Dwiyanti Evi Triandini Hanifah, Anny Hisbiyah, Yuni I Gusti Made Reza Gunadi Ranuh Ismi Citra Ismail, Ismi Citra Kuswanto, Djoko Marcos, Imella Minawati Minawati, Minawati Montolalu, Ivan Adrian Nesa, Ni Nyoman Metriani Neurinda Permata Kusumastuti Nur Rochmah, Nur Pasulu, Soraya Salle Perwitasari, Rayi Kurnia Praja, Nucky Indra Prihaningtyas, Rendi Aji Putu Adi Guna Permana Rini, Muji Retnaning Samadhi, Leonardo Ferryanto Mak Shofwan Hanief Soesanti, Frida SOETJIPTO . Sudarmo, Subijanto Marto Sumitro, Khadijah Rizky Susianto, Steven Christian Syahruna, Pradipta Reza Yudhi Kurniawan Yuri Pamungkas