DSD Flashcards
(21 cards)
CAH
21-OH deficiency most common
-salt wasting (low BP) due to low cortisol and aldosterone
-XX but virilised ext gen (most common DSD in XX)
virilisation/amenorrhoea at puberty
rx= fludrocortisone and hydrocortisone
MRKH
Mullerian agenesis
ovaries present
may have renal/vertebral changes
not inherited (sporadic)
McCune-Albright
Triad of:
cafe au lait
endocrine hyperfunction (hypophosphatemia but all else raised)
fibrous dysplasia
peripheral precocious puberty
rx= aromatase inhibitor
hyperfunction= precocious puberty
Granulosa cell tumor
high oestrogen levels can = precocious puberty
50% ovarian malignancy in adolescence
Sertoli-Leydig tumor
Hyperandrogenism
Gonadoblastoma
changes to y chromosome
benign but can become malignant
Swyer syndrome
changes to SRY gene
Mullerian/extragenital= F
streak gonads, small undescended testes
XY
rx= induce puberty/HRT
treatment delayed puberty- F
2.5-5mg EE po, over 12-18/12
psychological
treat cause
17bHSD3 deficiency
no androstenedione conversion to testosterone
female/ambiguous ext genitalia
-virilisation at puberty by peripheral conversion
3=no T
LH receptor defect
low testosterone
no breast development but otherwise presents as CAIS
5 alpha reductase deficiency
high T low DHT
autosomal recessive (AR AR)
female/ambiguous ext gen (DHT process)
normal Wolffian (T process)
5= high T
Fragile X
M>F
neurodevelopmental changes
X linked dominant
unusual facies
enlarged testes (marco-orchidism at puberty)
Hyperprolactinemia
> 1500x2- MRI
reduced FSH, LH and E
CAIS
normal T/DHT
breasts (T to E)
no uterus, undescended testes
female external genitalia
No Mullerian or Wolffian
S=breaSt
insensitivity= normallevels but no reaction to them
17 alpha hydroxylase
HTN
hypokalemia
POI
Klinefelter’s
47XXY
most common DSD (1 in 500 M)
infertility
tall
gynaecomastia
small, firm testes (peripheral)
raise FSH
rx=testosterone
normal time to puberty but hypogonadism
Kallmann’s
congenital absence of GnRH
Low FSH
Anosmia/colour blindness
M>F
delayed/absent puberty
rx=hormone replacement
central (anosmia=central too)
Ovotesticular DSD
46XX
ambiguous genitalia
Mullerian and Wolffian structures
really rare- ovarian and testicular tissue
Hypothyroid and puberty
Raised TSH acts at FSH receptors
-precocious puberty
Cushing’s
high ACTH, low Gns/GH
can delay puberty
rx-tumor/cause
Gn stimulation test
No response= prepubertal
LH+ FSH raised= post pubertal
-LH++ = central
