|Year : 2015 | Volume
| Issue : 4 | Page : 356-359
Aarskog–Scott syndrome: A perspective on growth and the influence of growth hormone therapy: Case-based review of literature
Babulreddy Hanmayyagari1, Mounika Guntaka2, Jayanthy Ramesh3
1 Department of Endocrinology, Elite Endocrinology Clinic, Chandanagar, Hyderabad, Telangana, India
2 Department of Biochemistry, CAIMS, Bommakal Village, Karimnagar, Hyderabad, Telangana, India
3 Department of Endocrinology, Osmania General Hospital, Hyderabad, Telangana, India
|Date of Web Publication||18-Sep-2015|
Flat No. 507, Emerald Block, Madinaguda, Hyderabad, Telangana
Source of Support: Nil., Conflict of Interest: There are no conflicts of interest.
Aarskog–Scott syndrome is an X-linked inherited disease characterized by short stature, facial abnormalities, skeletal, and genital anomalies. Although ophthalmic, dental, and cardiac defects are rarely seen. The present case report is of a 10-year-old boy with Aarskog syndrome who born with third degree of consanguineous marriage, delivered by caesarean section. The boy had triangular facies, maxillary hypoplasia, short neck, hypoplastic ear lobes, drooping shoulders, clinodactyly, single palmar crease, shawl scrotum. The patient was on growth hormone (GH) therapy and responding well. Along with GH therapy, the patient was on rehabilitation program and his family was undergoing genetic counseling.
Keywords: Aarskog–Scott syndrome, clinodactyly, short stature, shawl scrotum
|How to cite this article:|
Hanmayyagari B, Guntaka M, Ramesh J. Aarskog–Scott syndrome: A perspective on growth and the influence of growth hormone therapy: Case-based review of literature. CHRISMED J Health Res 2015;2:356-9
|How to cite this URL:|
Hanmayyagari B, Guntaka M, Ramesh J. Aarskog–Scott syndrome: A perspective on growth and the influence of growth hormone therapy: Case-based review of literature. CHRISMED J Health Res [serial online] 2015 [cited 2020 May 27];2:356-9. Available from: http://www.cjhr.org/text.asp?2015/2/4/356/165745
| Introduction|| |
The etiology of short stature is diverse. It varies from idiopathic to dysmorphic syndromes. Aarskog syndrome (AS) wasfirst reported by Aarskog in 1970. This syndrome is characterized by short stature, shawl scrotum, facial abnormality, and clinodactyly. When reviewed the literature, the incidence of this syndrome is exceedingly rare in clinical practice and experience with growth hormone (GH) is exceptionally limited.
| Case Report|| |
A 10-year-old boy referred to our outpatient department for the evaluation of short stature [Figure 1]. He was born to a 3rd degree of consanguineous marriage, delivered by caesarean section, first in twin pregnancy, birth weight was 2300 g, no history of any neonatal seizures, prolonged jaundice. His motor and mental milestones were delayed. Parents observed decreased height velocity from the age of 3 years. There is no history of any chronic systemic disease or infections. He is poor at academics.
On examination, his height was 118 cm US/LS, standard deviation score (SDS) was − 3.2, weight 17 kg, and head circumference was 49 cm. He had triangular facies, maxillary hypoplasia, short neck, hypoplastic ear lobes, drooping shoulders, clinodactyly [Figure 2] and [Figure 3], single palmar crease, shawl scrotum. His vitals were, P/R - 100/mt, blood pressure - 90/70 mm of Hg. Systemic examination was normal.
|Figure 2: Patient with triangular facies, maxillary hypoplasia, short neck, hypoplastic ear lobes, and drooping shoulders (front close view)|
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His laboratory investigations were as follows: Hemoglobin - 13 g% (11–15), total leukocyte count - 5600/cmm (4–11,000), erythrocyte sedimentation rate - 15 (9–14), fasting blood sugar - 89 mg% (80–110), serum creatinine - 0.8 mg/dl (0.8–1.4), corrected serum calcium - 9.2 mg/dl (8.4–10.4), T3-1.2 ng/ml (0.6–2.00), T4-8.4 μg/ml (5–12), thyroid stimulating hormone - 2.7 mIU/ml (0.3–5.5), serum GH - 10.8 ng/ml (with clonidine stimulation), insulin-like growth factor-I - 147 ng/ml (183–850) karyotyping - 46 × Y. His bone age was 10 years determined by Greulich and Pyle chart. Psychological assessment by Binet Kamat test for intelligence was patient mental age 6 years 10 months; intelligence quotient (IQ) was 67 suggestive of mild mental retardation.
Department of Genetics evaluated this patient with the above features of disproportionate short stature, mild mental retardation, triangular facies, maxillary hypoplasia, short neck, hypoplastic ear lobes, drooping shoulders, clinodactyly, single palmar crease, and shawl scrotum patient was diagnosed to have Aarskog–Scott syndrome.
Patient was started on GH therapy along with rehabilitation program and genetic counseling of family done. The patient is doing well on GH therapy gained about 10 cm in 1st year with SDS − 2.5.
| Discussion|| |
In Aarskog–Scott syndrome (facial-digital-genital syndrome), males are typically more severely affected than females. A diagnosis made by clinical criteria. The primary criteria include those manifestations that are consistently present in more than 80% of patients, and the secondary criteria are those that are present in 50–70% of patients.
The primary diagnostic criteria  includes short stature, hypertelorism, a broad nasal bridge, a short nose with anteverted nares, a long philtrum, maxillary hypoplasia with or without malocclusion, a crease below the lower lip, abnormal auricles with fleshy lobules, short and broad hands, short fifth fingers with clinodactyly and a shawl scrotum.
Secondary criteria include:
Widow's peak hair pattern, ptosis, downward slanting palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and mild interdigital webbing.
Other features include short neck with reduced mobility, cleft lip, cleft palate.
Ophthalmological findings include strabismus, ophthalmoplegia, large cornea, esotropia, nystagmus, and amblyopia. Dental findings include delayed eruption of permanent teeth, retarded dental age, hypodontia and dental malocclusion, enamel hypoplasia, and overcrowded teeth. Cardiac defects include pulmonary stenosis and ventricular septal defects. Intelligence is reported as normal or in the mildly retarded range. IQ range 68–128 reported.
As stated earlier, this syndrome is partially expressed in girls, which consists mainly of short stature, short and broad hands and feet, and mild facial features., Clitoral hypertrophy has been reported.
Radiological findings include short tubular bones with broad metaphyses, brachyphalangy, hypoplastic middle phalanges of the fifth finger, pelvic hypoplasia, anomalies of the cervical vertebrae, which consist of hypoplasia, synostosis, or spina bifida occulta, delay in ossification centers and brachycephaly. The differential diagnosis includes Robinow and Noonan syndromes.
Mode of inheritance is X-linked recessive in most cases , rarely autosomal dominant., Mutations in faciogenital dysplasia gene 1 have been mapped to chromosome Xp11.21. However, mutations in other genes reported as well.
Short stature in Aarskog syndrome
Disproportionate short stature with an increased upper to lower segment ratio seen in 90% patients of AS.,, Growth failure will be evident clinically by 3 years of age. Growth is slow during childhood. Puberty is usually delayed with a delayed bone age and pubertal height gain is suppressed. Final height is reported to be between 150 cm and 160 cm in male patients, and between 140 cm and 150 cm in females, corresponding to a height SDS of approximately − 2.5., These patients are generally not GH deficient.
Experience with growth hormone in Aarskog syndrome available data
There is one report of a large series of 19 (16 male) AS patients treated with GH. GH was given at a dose of 0.3 ± 0.07 mg/kg/week over 1.4–8.8 years. Height SDS increased by 1.0 ± 0.8 over a mean of 4 years of therapy started at a mean age of 10.5 years. Those patients (n = 6) who have completed GH treatment gained a median height SDS of 1.2 (0.3–2.8). The median final height was 167.8 cm, ranging from 160 to 170.2 cm. There were no side-effects, except for gynecomastia and hepatomegaly in one case.
| Acknowledgments|| |
All the authors would extend their sincere thankfulness to Dr. Amith Jadhav, Mr. Srinivas, Mr. Nilesh for their selfless efforts toward manuscript preparation, language editing, and final approval of text.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Teebi AS, Rucquoi JK, Meyn MS. Aarskog syndrome: Report of a family with review and discussion of nosology. Am J Med Genet 1993;46:501-9.
Hoo JJ. The Aarskog (facio-digito-genital) syndrome. Clin Genet 1979;16:269-76.
Brodsky MC, Keppen LD, Rice CD, Ranells JD. Ocular and systemic findings in the Aarskog (facial-digital-genital) syndrome. Am J Ophthalmol 1990;109:450-6.
Melnick M, Shields ED. Aarskog syndrome: New oral-facial findings. Clin Genet 1976;9:20-4.
Dayal PK, Chaudhary AR, Desai KI, Joshi HN. Aarskog syndrome. A case report. Oral Surg Oral Med Oral Pathol 1990;69:403-5.
Fernandez I, Tsukahara M, Mito H, Yoshii H, Uchida M, Matsuo K, et al.
Congenital heart defects in Aarskog syndrome. Am J Med Genet 1994;50:318-22.
Aarskog D. A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 1970;77:856-61.
Logie LJ, Porteous ME. Intelligence and development in Aarskog syndrome. Arch Dis Child 1998;79:359-60.
Fryns JP, Macken J, Vinken L, Igodt-Ameye L, van den Berghe H. The Aarskog syndrome. Hum Genet 1978;42:129-35.
Marcel B, Maximilian C, Miliac SM. Aarskog syndrome. Acta Med Auxol 1977;9:217-26.
Lizcano-Gil LA, Garcia-Cruz D, Cantu JM, Fryns JP. The facio-digito-genital syndrome (Aarskog syndrome): A further delineation of the distinct radiological findings. Genet Couns 1994;5:387-92.
Fryns JP. Aarskog syndrome: The changing phenotype with age. Am J Med Genet 1992;43:420-7.
Furukawa CT, Hall BD, Smith DW. The Aarskog syndrome. J Pediatr 1972;81:1117-22.
van de Vooren MJ, Niermeijer MF, Hoogeboom AJ. The Aarskog syndrome in a large family, suggestive for autosomal dominant inheritance. Clin Genet 1983;24:439-45.
Grier RE, Farrington FH, Kendig R, Mamunes P. Autosomal dominant inheritance of the Aarskog syndrome. Am J Med Genet 1983;15:39-46.
Pasteris NG, Cadle A, Logie LJ, Porteous ME, Schwartz CE, Stevenson RE, et al.
Isolation and characterization of the faciogenital dysplasia (aarskog-scott syndrome) gene: A putative Rho/Rac guanine nucleotide exchange factor. Cell 1994;79:669-78.
Berman P, Desjardins C, Fraser FC. The inheritance of the Aarskog facial-digital-genital syndrome. J Pediatr 1975;86:885-91.
Duncan PA, Klein RM, Wilmot PL, Shapiro LR. Addditional features of the Aarskog syndrome. J Pediatr 1977;91:769-70.
Petryk A, Richton S, Sy JP, Blethen SL. The effect of growth hormone treatment on stature in Aarskog syndrome. J Pediatr Endocrinol Metab 1999;12:161-5.
[Figure 1], [Figure 2], [Figure 3]