13 y.o male with delayed puberty, and XX chromosomes. Stelios Mantis, MD
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1 13 y.o male with delayed puberty, and XX chromosomes Stelios Mantis, MD
2 Initial Clinic Visit CC: 13 2/12 y.o male with a concern for delayed puberty and growth problems. HPI: Complicated past med hx. Born through use of IVF (mom had 2 early miscarries), had hypospadius (repaired in WI) and bifid scrotum and subsequent chromo analysis: XX. US reveals testicles, no Mullerian structures.
3 Initial Clinic Visit Cont Past Med Hx:. hypospadius repair in WI in 1997, noted to have seminiferous tubules on testicular biopsy (no karyotype of tissue). Seen at U of C due to failed repair of hypospadius While seeing urology sees U of C peds-endo group at age 2 and told to come back when he is ready to go through puberty. Saw outside endo in 2005 nl 17-OH-P, electrolytes, androstenedione, and estradiol (done on adult assays). US shows prepubertal testicles. Shows up at Palos Clinic 2010.
4 Initial Clinic Visit ROS: no HA, palpitations, jitteriness, heat or cold intolerance, started developing pubic hair and using deodorant at age 12. One of the shorter kids in class. Denied nocturnal emissions or erections. Not shaving. Has been at 10 th -20 th % for ht in past per parents. Remaining systems negative. Birth Hx: born at 36 wks, jaundice (required photo therapy, hypospadius (deep perineal scrotal hypospadius), ASD/VSD (no surgery)
5 Initial Clinic Visit Social Hx: Honor roll student (want to become forensic pathologist). Denies alcohol, tobacco, or substance use or sexual activity. Family Hx: Dad is type 2 diabetic, hypercholesterolemia & ht of 68 inches. Mom has hypothyroidism, uterine fibroids, and ht of 62 inches. MPH: 67.5 inches.
6 Initial Visit Vitals: 97.7, 69, 104/60. Ht: cm (10 th %), Wt: 57.4 kg (80 th %). General: pleasant, bright, cooperative. No dysmorphic features HEENT: PERRL, no scleral icterus, normocephalic, No facial hair Thyroid: nl CV: nl, no murmur Lungs: CTAB Abd: soft NT ND, no striae Neuro exam: nl reflexes GU: Tanner 3 pubic hair, phallus 3.4 cm, bifid scrotum testis 2 cm long diameter bilaterally. Tanner 2 axillary hair. Skin: hypertrichotic, no facial hair, mild comedomal acne, mild acanthosis nigricans
7 Differential Dx for 46 XX sex reversal SRY gene translocation Ovotestis Environmental factors (endo disruptors) Mutation in R-Spondin gene SOX-9 duplication
8 Studies done LH: 0.83 miu/ml (early pubertal) FSH: 1.53 miu/ml (early pubertal) DHEA-S: 145 (adrenarchal) Testosterone: 22 ng/dl (early puberty) TSH: 3.9 FT4: 1.0 Bone age: Chron age 13.5 yr>> skeletal age 13.1 years; predict ht: 65.7 inches Asked for further genetic studies
9 Follow up Age (yr) (Lab Corp) FSH (miu/ml) LH(mIU/ml) 1.81 Tot test Free test (ng/dl) 79 Estradiol (pg/ml) DHEA-S (ug/dl) 145 AMH (ng/ml) IGF-1 (ng/ml) GV (cm/yr) 451 6
10 Follow up Age (yr) (Lab Corp) FSH (miu/ml) 1.45 on adult assay LH(mIU/ml) 1.81 on adult assay Tot test Free test (ng/dl) /5.3 Estradiol (pg/ml) DHEA-S (ug/dl) 145 AMH (ng/ml) 7.8 IGF-1 (ng/ml) GV (cm/yr) 451 6
11 Follow up Age (yr) (Lab Corp) FSH (miu/ml) LH(mIU/ml) Tot test Free test (ng/dl) / / /4.7 Estradiol (pg/ml) 18 DHEA-S (ug/dl) AMH (ng/ml) IGF-1 (ng/ml) GV (cm/yr)
12 Follow up Genetics consult obtained: NO SRY gene seen on microarray Pt started on testosterone 50 mg monthly injections March Genetics is sending blood sample for SOX-9 duplication
13 SOX-9
14 Genetic Control of sex determination and differentiation in males Somatic cells Genital Ridge WTI SFI Bipotential Gonad SRY SOX9 Germ Cell AR TESTIS AMH Wollfian Duct AR External Genitalia Insl3/ Lgr8 Descent Mullerian regression
15 SOX9-10% of phenotypic male w XX karyotype are missing SRY gene -SOX9 is a HMG box protein downstream of SRY -SOX9 needed for testicular development -if SOX9 is over expressed (duplicated) in XX patients the testis pathway takes control of the fate of the gonad
16 R-Spondin (Rspo1) -Loss-of-function mutations in human RSPO1 cause testicular differentiation in 46, XX phenotypic males -unclear mechanism though thought to act on to synergize Wnt proteins -patients have distinct phenotype of palmoplantar kertaoma and predisposition to squamous cell CA.
17 References Parma et al. R-spondin1 is essential in sex determination, skin differentiation and malignancy. Nature Genetics. 28;11 Nov Piprek, RP. Genetic mechaniss underlying male sex determination inmammals. Journal of Applied Genetics. 50 (4),2009, pp Cox, J. A SOX9 Duplication and Familial 46 XX Developmental Testicular Disorder. New England Journal of Medicine. 364;1 January 2011.
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