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Growth Hormone Deficiency and Combined Arch Dis Child: First Published As 10.1136/Adc.68.2.231 on 1 February 1993

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Growth Hormone Deficiency and Combined Arch Dis Child: First Published As 10.1136/Adc.68.2.231 on 1 February 1993 Archives ofDisease in Childhood: short reports 231 Growth hormone deficiency and combined Arch Dis Child: first published as 10.1136/adc.68.2.231 on 1 February 1993. Downloaded from immunodeficiency Mimi L K Tang, Andrew S Kemp Abstract of his knee. Serum immunoglobulin concentra- The first description of an association of tions showed absent IgG, normal IgA, IgM, and isolated growth hormone deficiency (IGHD) IgE (table). He was treated with intravenous and combined immunodeficiency is presented. antibiotics and gammaglobulin, and was con- The findings suggest that IGHD should be tinued on monthly immunoglobulin infusions considered as a cause of short stature in with antibiotics during periods of productive children with combined immunodeficiency cough. Immune function tests at 11 months before attributing growth retardation to infec- revealed a combined defect of humoral and tion. cellular immunity (table). He was admitted to hospital at 4 years of age (Arch Dis Child 1993;68:231-2) having had a persistent cough for 18 months with deterioration over the preceding eight There have been several reports of isolated weeks despite regular oral antibiotics. He had growth hormone deficiency (IGHD) associated not suffered from recurrent otitis media, muco- with X linked agammaglobulinaemia. 1-3 In cutaneous candida, or chronic diarrhoea. Exam- these cases cellular immune function, as mea- ination of his chest revealed bilateral basal sured by mitogenic responses and T cell crackles, and a chest radiograph demonstrated numbers, has been normal. We describe a bilateral basal consolidation with right middle patient with a combined defect in humoral and lobe and left lingular collapse. Bronchoscopy cellular immunity associated with IGHD whose and bronchial aspirate failed to identify a immune defect was inherited in an X linked causative organism. A lymphopenia and a recessive pattern. neutropenia were noted for the first time. Mitogenic responses and T cell numbers had deteriorated (table). He improved slowly over Case report five weeks with intensive physiotherapy, inhaled A boy was born at full term to unrelated salbutamol, and intravenous antibiotics. Sub- http://adc.bmj.com/ parents. Recurrent respiratory tract infections sequent management has included prophylactic with cough and purulent nasal discharge, epi- antibiotics and monthly gammaglobulin infu- sodes of conjunctivitis, pustular lesions on his sions. He continues to have an intermittent fingers and toes, and candida napkin dermatitis unproductive cough and has developed mild commenced at 6 months of age. At 8 months, a persistent oral thrush. seborrhoeic scalp rash was noted. At 9 months, The patient's height and weight at 10 months he developed aHaemophilus influenzae B arthritis ofage were on the 10th centile. At 2 years of age on October 2, 2021 by guest. Protected copyright. Immune function tests (normal range for age in parentheses) Age (months) 9 11 51 60 63 White cells (x109/1) 28-0 12-7 1 0 9-2 10 2 Lymphocytes (x10/l) 2-0 2-0 0 7 0 9 1 0 Immunoglobulins (g/l) IgG 0-5 (2-4-11-3) 22-7 (2-4-12-0) 10-2 (4 8-17 7) 7-7 (48-17-7) 8-4 (4-8-17 7) IgM 0-4 (0 3-1-3) 0 3 (03-1-5) 0-1 (0-3-1 5) 0-4 (0 3-1 5) 0-4 (0-3-1-5) IgA 0-2 (0-1-0-9) <0 1 (0 1-1H1) 0 4 (03-2 1) <0 1 (0-3-2-1) 0 1 (03-2-1) Isoagglutinin titres* Department of Anti-A - 2 - - 0 Immunology, Anti-B 0 - 0 Royal Children's Hospital, Lymphocyte subsets (x 109/1) CD3 _ 0-85 (2-7-8-5) 0-09 (2 0-5-3) 0 07 (1 1-3 5) 0-19 (1-1-3-5) Victoria, CD4 _ 0-49 (1-7-5-7) 0-07 (0-7-2-0) 0-07 (0 7-2-0) 0-08 (0-7-2-0) Australia CD8 _ 0 12 (06-2-7) 0-03 (0-5-1-4) 0-04 (0-5-1 4) 0-05 (0-5-1-4) Mimi L K Tang CD19 - 1 18 (0 7-3 4) 0 58 (0-5-1-5) 0-79 (0-5-15) 0-94 (0-5-1-5) Andrew S Kemp Correspondence to: Mitogen responses (%)t Dr Mimi Tang, Whole blood: Department of Immunology, Phytohaemagglutinin - 31 17 25 19 Royal Children's Hospital, Separated cells: Flemington Road, Phytohaemagglutinin - 11 - 47 55 Parkville, Pokeweed mitogen - 83 - 79 55 Victoria 3052, Concanavalin A - 1 - 60 9 Australia. *Blood group 0. Accepted 10 October 1992 tMitogenic responses expressed as a percentage of control; normal range 70-150/o. 232 Tang, Kemp his height was on the 25th centile (84 cm) and were first noted at 11 months of age and have weight on the 10th centile. His growth velocity worsened with time. B cell numbers are normal, then fell to 4 cm/year and his height at 4 years a feature previously noted in both XCID6 and Arch Dis Child: first published as 10.1136/adc.68.2.231 on 1 February 1993. Downloaded from was below the 3rd centile (93-3 cm). Bone age at Nezelof's syndrome.7 IgM and IgA concentra- 3-5 years was 2-2-75 years, and at 4-25 years tions have fluctuated; however, isoagglutinin was 3 0 years. Penile length was 5 cm (50th titres have remained low despite normal serum centile). Neurological examination was normal. IgM. The low number of T cells in our patients Concentrations of urea and electrolytes and a differs from the findings reported in attenuated lateral skull radiographwere normal. Thefather's XSCID.s height was on the 50th centile and mother's The relation between growth hormone and height was on the 25th centile. Thyroid function immunodeficiency is unclear. Growth hor- was normal for age with total thyroxine con- mone has been implicated to play a part in the centration 142 nmol/l (reference range 70-155), development, maintenance, and function of cell free thyroxine index 105 (60-155), triiodothyro- mediated immunity. The Snell-Bagg dwarf nine resin uptake 74% (75-115), and thyroid mouse with hypopituitarism and a thymus stimulating hormone 2-2 mU/l (<5-0). An dependent immunodeficiency, manifesting as arginine-insulin tolerance test revealed complete defective cell mediated immunity and partial growth hormone deficiency (peak growth impairment ofhumoralimmunity in the presence hormone 4 5 [ig/l, normal peak >10 tig/l). His ofnormal immunoglobulins, is analogous to our glucose concentration fell from 3-6 mmol/l to patient. Cellular and humoral immunity in 0 9 mmol/l and cortisol rose from 390 nmol/l to these mice has been restored with growth 988 nmol/l during the study. He was commenced hormone treatment.8 Growth hormone replace- on human growth hormone at 4-5 years of age. ment in our patient, however, while resulting in He has since grown 5 2 cm in six months. an increased growth velocity, did not improve Immune function tests at 4-9 and 5-2 years immune function after 11 months. Furthermore, showed a persistent T cell defect (table). The in vitro culture of his lymphocytes with re- normal concentrations of IgM on these occa- combinant growth hormone did not improve sions did not appear to be related to growth mitogenic responses. It has recently been hormone treatment as normal concentrations suggested that a gene regulating growth hormone had been noted previously. In vitro culture of production is situated in the mid-portion of the separated lymphocytes at 5-2 years with recom- long arm of the X chromosome.2 A defect of the binant growth hormone at 10 [ig/ml and 100 1ig/l X chromosome involving this gene could account did not improve mitogenic responses. for the X linked inheritance of a combined Adenosine deaminase and purine nucleoside immunodeficiency and growth hormone phosphorylase values and expression of class 1 deficiency. and class 2 major histocompatibility complex Short stature in children with combined antigens were normal. immune deficiency may often be attributed to the effect of recurrent infections. The findings http://adc.bmj.com/ in our patient suggest that growth hormone FAMILY HISTORY deficiency should be considered as a possible The patient has two sisters aged 5 years and cause of short stature in children with combined 9 years who are both well. There were no early immune deficiencies. child deaths in the immediate family. His mother had two brothers who both died in the first year of life with 'immunoglobulin defi- We thank Dr G Werther, department of endocrinology, Royal Children's Hospital, Melbourne, for reviewing this manuscript. on October 2, 2021 by guest. Protected copyright. ciency'. His mother's uncle, one of twins, died Dr Tang was supported by a National Health and Medical at 9 months of age with influenza. The other Research Council scholarship. twin died of a carcinoma at the age of65 years. 1 Fleisher TA, White RM, Broder S, et al. X-linked hypo- Discussion gammaglobulinaemia and isolated growth hormone We present the first description of a combined deficiency. N EnglJ Med 1980;302:1429-34. 2 Conley ME, Burks AW, Herrod HG, Puck JM. Molecular immune defect in association with IGHD. analysis of X-linked agammaglobulinemia with growth Based on family history, the immune defect in hormone deficiency. J Pediatr 1991;119:392-7. 3 Monafo V, Maghnie M, Terracciano L, Valtorta A, Massa M, our patient appears to be inherited in an X Severi F. X-linked agammaglobulinemia and isolated linked recessive fashion. There is a range of growth hormone deficiency. Acta Pediatr Scand 1991;80: 563-6.
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