Letters to the Editor
Seizure as a presenting manifestation of vitamin D dependent rickets type 1 Sir, With reference to the interesting case report by Rani et al.,[1] vitamin D dependent rickets type 1 (VDDR‑I) has been increasingly reported in the Indian subcontinent.[2] Apart from the suggestive clinical picture of rickets, hypotonia, muscle weakness, growth failure, and hypocalcemic seizures in early infancy, certain characteristic laboratory features of increased serum concentrations of parathyroid hormone, and low or undetectable serum concentrations of 1,25‑dihydroxyvitamin D (1,25(OH) 2D) despite normal or increased concentrations of 25‑hydroxyvitamin D (25‑OHD) in addition to genetic mutational studies, must be sought to confirm the diagnosis of VDDR‑I.[3‑4] I realize that such confirmation was not feasible in the studied patient by Rani et al.[1] in the view of financial constraints and lack of availability. It is wellknown that nutritional rickets is a major public health problem in many parts of the world, particularly developing countries. Even in the Indian context, it has been reported to be present in the majority of children in spite of the wide availability of sunlight.[5] I presume that Rani et al.,[1] through their case report, sent a sound message to pediatricians in developing countries with limited financial resources to consider therapeutic trial of 1 α calciferol in children with rickets who fail to respond
Neonatal thyroid screening: Relationship between cord blood thyroid stimulating hormone levels and thyroid stimulating hormone in heel prick sample on 4th to 7th day‑of‑life 188
to conventional doses of cholecalciferol combined with calcium supplements before referring them to pediatric endocrinologists to exclude hereditary‑related rickets. Mahmood Dhahir Al‑Mendalawi Department of Paediatrics, Al‑Kindy College of Medicine, Baghdad University, Baghdad, Iraq Corresponding Author: Prof. Mahmood Dhahir Al‑Mendalawi, P O Box - 55302, Baghdad, Iraq. E‑mail: [email protected]
References 1.
2.
3. 4. 5.
Rani PR, Maheshwari R, Prasad NR, Karthik Reddy TS, Reddy PA. Seizure as a presenting manifestation of vitamin D dependent rickets type 1. Indian J Endocrinol Metab 2013;17:S665‑6. Zargar AH, Mithal A, Wani AI, Laway BA, Masoodi SR, Bashir MI, et al. Pseudovitamin D deficiency rickets: A report from the Indian subcontinent. Postgrad Med J 2000;76:369‑72. Kim CJ. Vitamin D dependent rickets type I. Korean J Pediatr 2011;54:51‑4. Malloy PJ, Feldman D. Genetic disorders and defects in vitamin d action. Endocrinol Metab Clin North Am 2010;39:333‑46. Balasubramanian S, Dhanalakshmi K, Amperayani S. Vitamin d deficiency in childhood: A review of current guidelines on diagnosis and management. Indian Pediatr 2013;50:669‑75.
Access this article online Quick Response Code: Website: www.ijem.in DOI: 10.4103/2230-8210.131772
Sir, As no statistically significant difference was observed in the mean serum thyroid stimulating hormone (TSH) values obtained from cord blood (CB) and heel prick (HP), the observation addressed by Seth et al.[1] that the same cut‑off value for recall can be used for screening of congenital hypothyroidism (CH) is really interesting. Accordingly, their option to choose TSH‑CB rather than TSH‑HP in CH screening program seems justifiable. Seth et al.[1] have reported that using TSH‑CB in CH screening program offers the advantages of availability in abundance, ethical appropriateness, and ensures compliance since it can be collected in all new‑borns before the discharge in hospital. I presume that there are two additional advantages of that option apart from those addressed by Seth et al.[1] These include the following: (1) The TSH‑CB screening program has been found to be not affected by non‑thyroidal mothers’
Indian Journal of Endocrinology and Metabolism / Jan-Feb 2015 / Vol 19 | Issue 1
Letters to the Editor
diseases, notably toxemia of pregnancy, diabetes mellitus, and positive HIV status.[2] (2) The TSH‑CB screening program can be also used as a monitoring tool for the evaluation and control of iodine deficiency disorders in a given population.[2‑4]
2.
3. 4.
Mahmood Dhahir Al‑Mendalawi Department of Paediatrics, Al‑Kindy College of Medicine, Baghdad University, Baghdad, Iraq Corresponding Author: Prof. Mahmood Dhahir Al‑Mendalawi, P.O. Box 55302, Baghdad Post Office, Baghdad, Iraq. E‑mail: [email protected]
7th day‑of‑life. Indian J Endocrinol Metab 2014;18:125‑6. Ward LS, Kunii IS, de Barros Maciel RM. Thyroid stimulating hormone levels in cord blood are not influenced by non‑thyroidal mothers’ diseases. Sao Paulo Med J 2000;118:144‑7. Rajatanavin R. Iodine deficiency in pregnant women and neonates in Thailand. Public Health Nutr 2007;10:1602‑5. Velilla TA, Rodríguez CG, Sánchez AB, Portillo CM, de la Vega JA, Cerrato SB, et al. Using newborn congenital hypothyroidism screening specimens to detect iodine deficiency in three regions of Spain. An Pediatr (Barc) 2010;72:121‑7. Access this article online Quick Response Code: Website: www.ijem.in
References 1.
DOI: 10.4103/2230-8210.131773
Seth A, Rashmi M, Bhakhri BK, Sekri T. Neonatal thyroid screening: Relationship between cord blood thyroid stimulating hormone levels and thyroid stimulating hormone in heel prick sample on 4th to
Cut‑offs for stretched penile length in neonates Sir, We read with interest the recently published paper by Prabhu et al. titled, “Normative data for stretched penile length in term neonates born in Tamil Nadu”.[1] The attempt to establish local norms for stretched penile length (SPL) in neonates is noteworthy in view of racial and ethnic variations worldwide.[2] However, the usefulness of their data in a clinical practice is limited in the absence of defined cut‑off of SPL measurements. We believe that some re‑evaluation of the available data will significantly improve the clinical utility of their findings. The clinical utility of SPL measurements in neonates depends upon the ability to define micropenis or macropenis based on the published normative data. A finding of micropenis in a neonate is an important clinical clue to numerous underlying disorders associated with pituitary/hypothalamic failure, primary testicular failure, defects in testosterone action as well as some syndromes.[2] Similarly, macropenis may lead to the identification of rare syndromes like Lenz microphthalmia syndrome and Beckwith–Wiedemann syndrome.[3] The definition of micro or macropenis is based on SPL of 2.5 standard deviation (SD) below or above the mean for age respectively.[2] Alternatively, 3rd and 97th percentile values can be used.[4] In this context, it is important to establish a range, lower (−2.5 SD) and upper (+2.5 SD) cut‑offs or lower (3rd) and upper (97th) centiles of the SPL measurements. Methods used in previous
studies on normative data may be applied to the available data to establish the cut‑off values.[4,5] These can then be supplied as supplementary data files in a forthcoming issue of Indian Journal of Endocrinology and Metabolism. Devi Dayal, Anil Kumar Bhalla1 Department of Pediatrics, Pediatric Endocrinology Unit, Postgraduate Institute of Medical Education and Research, 1 Department of Pediatrics, Child Growth and Anthropology Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India Corresponding Author: Dr. Devi Dayal, Department of Pediatrics, Pediatric Endocrinology Unit, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh ‑ 160 012, India. E‑mail: [email protected]
References 1.
2. 3.
4. 5.
Prabhu SR, Mahadevan S, Bharath R, Jagadeesh S, Kumutha J, Suresh S. Normative data for stretched penile length in term neonates born in Tamil Nadu. Indian J Endocrinol Metab 2014;18:585‑6. Wiygul J, Palmer LS. Micropenis. ScientificWorldJournal 2011;11:1462‑9. Okumus N, Zenciroglu A, Demirel N, Bas AY, Ceylaner S. Apparent Lenz microphthalmia syndrome: A patient with unusual manifestations. Genet Couns 2008;19:177‑82. Kutlu AO. Normative data for penile length in Turkish newborns. J Clin Res Pediatr Endocrinol 2010;2:107‑10. Al‑Herbish AS. Standard penile size for normal full term newborns in the Saudi population. Saudi Med J 2002;23:314‑6. Access this article online Quick Response Code:
Indian Journal of Endocrinology and Metabolism / Jan-Feb 2015 / Vol 19 | Issue 1
Website: www.ijem.in DOI: 10.4103/2230-8210.146882
189
Copyright of Indian Journal of Endocrinology & Metabolism is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
Seizure as a presenting manifestation of vitamin D dependent rickets type 1 Sir, With reference to the interesting case report by Rani et al.,[1] vitamin D dependent rickets type 1 (VDDR‑I) has been increasingly reported in the Indian subcontinent.[2] Apart from the suggestive clinical picture of rickets, hypotonia, muscle weakness, growth failure, and hypocalcemic seizures in early infancy, certain characteristic laboratory features of increased serum concentrations of parathyroid hormone, and low or undetectable serum concentrations of 1,25‑dihydroxyvitamin D (1,25(OH) 2D) despite normal or increased concentrations of 25‑hydroxyvitamin D (25‑OHD) in addition to genetic mutational studies, must be sought to confirm the diagnosis of VDDR‑I.[3‑4] I realize that such confirmation was not feasible in the studied patient by Rani et al.[1] in the view of financial constraints and lack of availability. It is wellknown that nutritional rickets is a major public health problem in many parts of the world, particularly developing countries. Even in the Indian context, it has been reported to be present in the majority of children in spite of the wide availability of sunlight.[5] I presume that Rani et al.,[1] through their case report, sent a sound message to pediatricians in developing countries with limited financial resources to consider therapeutic trial of 1 α calciferol in children with rickets who fail to respond
Neonatal thyroid screening: Relationship between cord blood thyroid stimulating hormone levels and thyroid stimulating hormone in heel prick sample on 4th to 7th day‑of‑life 188
to conventional doses of cholecalciferol combined with calcium supplements before referring them to pediatric endocrinologists to exclude hereditary‑related rickets. Mahmood Dhahir Al‑Mendalawi Department of Paediatrics, Al‑Kindy College of Medicine, Baghdad University, Baghdad, Iraq Corresponding Author: Prof. Mahmood Dhahir Al‑Mendalawi, P O Box - 55302, Baghdad, Iraq. E‑mail: [email protected]
References 1.
2.
3. 4. 5.
Rani PR, Maheshwari R, Prasad NR, Karthik Reddy TS, Reddy PA. Seizure as a presenting manifestation of vitamin D dependent rickets type 1. Indian J Endocrinol Metab 2013;17:S665‑6. Zargar AH, Mithal A, Wani AI, Laway BA, Masoodi SR, Bashir MI, et al. Pseudovitamin D deficiency rickets: A report from the Indian subcontinent. Postgrad Med J 2000;76:369‑72. Kim CJ. Vitamin D dependent rickets type I. Korean J Pediatr 2011;54:51‑4. Malloy PJ, Feldman D. Genetic disorders and defects in vitamin d action. Endocrinol Metab Clin North Am 2010;39:333‑46. Balasubramanian S, Dhanalakshmi K, Amperayani S. Vitamin d deficiency in childhood: A review of current guidelines on diagnosis and management. Indian Pediatr 2013;50:669‑75.
Access this article online Quick Response Code: Website: www.ijem.in DOI: 10.4103/2230-8210.131772
Sir, As no statistically significant difference was observed in the mean serum thyroid stimulating hormone (TSH) values obtained from cord blood (CB) and heel prick (HP), the observation addressed by Seth et al.[1] that the same cut‑off value for recall can be used for screening of congenital hypothyroidism (CH) is really interesting. Accordingly, their option to choose TSH‑CB rather than TSH‑HP in CH screening program seems justifiable. Seth et al.[1] have reported that using TSH‑CB in CH screening program offers the advantages of availability in abundance, ethical appropriateness, and ensures compliance since it can be collected in all new‑borns before the discharge in hospital. I presume that there are two additional advantages of that option apart from those addressed by Seth et al.[1] These include the following: (1) The TSH‑CB screening program has been found to be not affected by non‑thyroidal mothers’
Indian Journal of Endocrinology and Metabolism / Jan-Feb 2015 / Vol 19 | Issue 1
Letters to the Editor
diseases, notably toxemia of pregnancy, diabetes mellitus, and positive HIV status.[2] (2) The TSH‑CB screening program can be also used as a monitoring tool for the evaluation and control of iodine deficiency disorders in a given population.[2‑4]
2.
3. 4.
Mahmood Dhahir Al‑Mendalawi Department of Paediatrics, Al‑Kindy College of Medicine, Baghdad University, Baghdad, Iraq Corresponding Author: Prof. Mahmood Dhahir Al‑Mendalawi, P.O. Box 55302, Baghdad Post Office, Baghdad, Iraq. E‑mail: [email protected]
7th day‑of‑life. Indian J Endocrinol Metab 2014;18:125‑6. Ward LS, Kunii IS, de Barros Maciel RM. Thyroid stimulating hormone levels in cord blood are not influenced by non‑thyroidal mothers’ diseases. Sao Paulo Med J 2000;118:144‑7. Rajatanavin R. Iodine deficiency in pregnant women and neonates in Thailand. Public Health Nutr 2007;10:1602‑5. Velilla TA, Rodríguez CG, Sánchez AB, Portillo CM, de la Vega JA, Cerrato SB, et al. Using newborn congenital hypothyroidism screening specimens to detect iodine deficiency in three regions of Spain. An Pediatr (Barc) 2010;72:121‑7. Access this article online Quick Response Code: Website: www.ijem.in
References 1.
DOI: 10.4103/2230-8210.131773
Seth A, Rashmi M, Bhakhri BK, Sekri T. Neonatal thyroid screening: Relationship between cord blood thyroid stimulating hormone levels and thyroid stimulating hormone in heel prick sample on 4th to
Cut‑offs for stretched penile length in neonates Sir, We read with interest the recently published paper by Prabhu et al. titled, “Normative data for stretched penile length in term neonates born in Tamil Nadu”.[1] The attempt to establish local norms for stretched penile length (SPL) in neonates is noteworthy in view of racial and ethnic variations worldwide.[2] However, the usefulness of their data in a clinical practice is limited in the absence of defined cut‑off of SPL measurements. We believe that some re‑evaluation of the available data will significantly improve the clinical utility of their findings. The clinical utility of SPL measurements in neonates depends upon the ability to define micropenis or macropenis based on the published normative data. A finding of micropenis in a neonate is an important clinical clue to numerous underlying disorders associated with pituitary/hypothalamic failure, primary testicular failure, defects in testosterone action as well as some syndromes.[2] Similarly, macropenis may lead to the identification of rare syndromes like Lenz microphthalmia syndrome and Beckwith–Wiedemann syndrome.[3] The definition of micro or macropenis is based on SPL of 2.5 standard deviation (SD) below or above the mean for age respectively.[2] Alternatively, 3rd and 97th percentile values can be used.[4] In this context, it is important to establish a range, lower (−2.5 SD) and upper (+2.5 SD) cut‑offs or lower (3rd) and upper (97th) centiles of the SPL measurements. Methods used in previous
studies on normative data may be applied to the available data to establish the cut‑off values.[4,5] These can then be supplied as supplementary data files in a forthcoming issue of Indian Journal of Endocrinology and Metabolism. Devi Dayal, Anil Kumar Bhalla1 Department of Pediatrics, Pediatric Endocrinology Unit, Postgraduate Institute of Medical Education and Research, 1 Department of Pediatrics, Child Growth and Anthropology Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India Corresponding Author: Dr. Devi Dayal, Department of Pediatrics, Pediatric Endocrinology Unit, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh ‑ 160 012, India. E‑mail: [email protected]
References 1.
2. 3.
4. 5.
Prabhu SR, Mahadevan S, Bharath R, Jagadeesh S, Kumutha J, Suresh S. Normative data for stretched penile length in term neonates born in Tamil Nadu. Indian J Endocrinol Metab 2014;18:585‑6. Wiygul J, Palmer LS. Micropenis. ScientificWorldJournal 2011;11:1462‑9. Okumus N, Zenciroglu A, Demirel N, Bas AY, Ceylaner S. Apparent Lenz microphthalmia syndrome: A patient with unusual manifestations. Genet Couns 2008;19:177‑82. Kutlu AO. Normative data for penile length in Turkish newborns. J Clin Res Pediatr Endocrinol 2010;2:107‑10. Al‑Herbish AS. Standard penile size for normal full term newborns in the Saudi population. Saudi Med J 2002;23:314‑6. Access this article online Quick Response Code:
Indian Journal of Endocrinology and Metabolism / Jan-Feb 2015 / Vol 19 | Issue 1
Website: www.ijem.in DOI: 10.4103/2230-8210.146882
189
Copyright of Indian Journal of Endocrinology & Metabolism is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
