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RC Peds Endo 2023 > DSD > Flashcards

DSD Flashcards

1
Q

MALES:
what do Sertoli cells produce?
for how long?

A

AMH
from fetus to puberty

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2
Q

FEMALES:
what do granulosa cells produce and when?

A

AMH is produced at lower levels by granulosa cells of growing follicles from the twenty-third fetal week, a stage where Müllerian ducts are no longer responsive to it.

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3
Q

When does masculinization of external genitalia begin?

what is the first step?

A

9th week gestation

lengthening of the anogenital distance

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4
Q

What tissue does gonads come from in fetal development

A

mesoderm

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5
Q

medial portion of urogenital ridges form into ?

A

adrenal cortex
gonads

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6
Q

Where do Wolffian duct arise from in embryology?

A

Intermediate mesoderm

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7
Q

when do the gonads and external genitalia begin to differentiate?

A

gonads - 6th week for XY/SRY
8th-10th week for XX

external genitalia - 9th week

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8
Q

DHT
- important point
- conversion by what from what
- where

A

cannot be aromatized to estrogen

5a-reductase converts from testo

5a-reductase type 1: target tissue (urogenital sinus and fetal genital skin)

5a-reductase type 2: adrenal cortex and liver after birth
- in skin from puberty

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9
Q

estrogen
- conversion from what by what
- where

A

converted from androgens
by aromatase

granulosa cells of ovary
placenta
muscle
liver
fair follicles
adipose tissue
brain

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10
Q

what are the adrenal androgens

A

DHEA-s
androstenedione
testo

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11
Q

enzyme to make testo in testis?

A

17B-HSD-3
only in testis

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12
Q

what kind of receptor is the androgen receptor?

A

nuclear receptor

binds to ARE (androgen response elements) to the promoter regions of target genes

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13
Q

if no androgen, when do Wolffian duct regress?

A

10-12 week

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14
Q

when is maximal fetal penile growth?

A

3rd trimester

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15
Q

how do labioscrotal folds fuse in males?

A

dorsal to ventral fashion

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16
Q

SRY

A
  • SRY = sex-determining region on Y = testis-determining region

induces Sertoli cell differentiation and initiates the process of male sexual differentiation

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17
Q

SOX9
- what is it
- function

A

SRY-box gene
= earliest upregulated gene in the testis pathway downstream of SRY
= master regulator of testis differentiation

Mimics SRY independently of SRY expression

1) Triggers Sertoli cell differentiation with SF1
2) Triggers AMH transcription

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18
Q

What triggers Sertoli cell differentiation

A

SOX9 and SF1

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19
Q

SOX9
- duplication
- deletion

A
  • duplication = 46XX sex reversal
  • deletion = 46XY sex reversal
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20
Q

DAX1
- gene
- function

A

NR0B1

1) Essential for the development of the adreno-gonadal primordia

2) Testis repressor
- Antagonizes AMH transcription
- Transcriptional repressor of many genes (including SF1 and some steroidogenic enzyme genes)

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21
Q

what triggers AMH secretion

what antagonzies

A

SOX9 is main one

SF1, GATA4, and WT1 synergize to increase SOX9-activated AMH

antagonized by DAX1

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22
Q

Mayer–Rokitansky–Küster–Hauser syndrome

A

WNT4 hetero mutation

  • Masculinized ovaries and lack Müllerian ducts (or hypoplastic uterus)
  • Also have Wolffian ducts → T biosynthesis
  • Renal abnormalities, hearing problems, and skeletal abnormalities
23
Q

WNT4 role

A

promoting ovarian differentiation and blocking testicular differentiation

24
Q

WT1
- what is it
- function
- presentation for mutations?

A

Wilms tumour

  • Regulates SRY
  • Mutations cause gonadal dysgenesis associated with progressive renal disease

3 clinical presentations:

1) Denys-Drash – clinical triad of gonadal dysgenesis, nephropathy, and Wilms tumor

2) Frasier syndrome – gonadal dysgenesis, progressive nephropathy and gonadoblastoma.

3) WAGR syndrome – the association of Wilms tumor, aniridia, genitourinary abnormalities (ambiguous genitalia and/or gonadoblastoma), and mental retardation

25
SF1
activates the expression of SRY, SOX9, AMH
26
Hormones needed for penile growth what if you're missing each one
Need both testo and GH for optimal penile length If testo without GH - penis will be a little smaller If GH without testo - penis will be a lot smaller
27
mixed gonadal dysgenesis - karyotype - gonads - risks
* Most frequent karyotype 45X, 46XY * Asymmetric gonadal development ○ 1 streak + 1 dysgentic testis ** propensity to gonadoblastoma
28
Sex reversal 46XY
SF1 mutation SOX9 deletion SRY loss of function DHH mutation CAIS CBX2
29
Sex reversal 46XX
SRY SOX9 duplication DAX1 mutation SOX3 overexpression WNT4
30
Gene SLO
DHCR7 Dont Have Chol Right
31
Labs to do in DSD w/u
1) Lytes 2) QF-PCR for SRY 3) Chromosomes - karyotype, microarray 4) HPG axis -- LH -- Testosterone (by LC/MS) -- DHT 5) Adrenal function/ Steroidogenesis -- Electrolytes -- Renin -- 17-OHP -- Testosterone -- Androstenedione -- DHEA -- 17-Preg 6) ACTH stim in all patients with DSD: 7) HCG stim only if male and looking at androgens produced in the testes 8) Evaluate testis presence/function -- AMH (Sertoli) -- Inhibin B (Sertoli) -- Testosterone synthesis stimulation with hCG 9) Urinalysis: proteinuria (Denys-Drash syndrome) 10) Cholesterol metabolites (plasma sterols): cholesterol metabolism defects (SLO) 11) Molecular testing: If there is evidence supporting a monogenic etiology, molecular investigations either through targeted or multigene panel testing should be undertaken.
32
Levels of AMH correlates with what
functional testicular tissue
33
AIS cause
Androgen receptor defect
34
mullerian develops into what also called what
uterine tubes, uterus and upper vagina paramesonephric
35
wolffian develops into what also called what
vas deferens, epididymis and seminal vesicles mesonephric
36
What do these develop into: Genital tubercle Urethral folds Labioscrotal folds
Genital tubercle Clitoris/Penis Urethral folds Labia minora/penile urethra Labioscrotal folds Labia majora/scrotum
37
how are the Leydig cells stimulated
by hCG from placenta in the first 2 trimesters by LH in the third trimester
38
gubernaculum
male: guides descent of testes into scrotum female: guides ovaries/ductal system into pelvis ovarian ligament broad ligament
39
what do Sertoli cells produce and for how long
Sertoli cells continue to produce high amounts of AMH until puberty.
40
when does masculinization of the external genitalia happen? how does it begin?
begins during the ninth fetal week in response to DHT characterized by lengthening of the anogenital distance Subsequently labioscrotal folds fuse in a dorsal to ventral fashion
41
In 46XY dysgenic DSD complete dysgenesis, what is the phenotype? Genes involved?
the fetus is completely feminized, owing to the lack of the two testicular hormones involved in fetal sex differentiation SRY mutations, SF1 mutations, WT1 mutations
42
most common karyotype for MGD labs to look for
46,XX/46,XY labs: low AMH
43
what are examples of Gonadal dysgenesis in sex chromosome aneuploidies
Klinefelter 47,XYY, 47 XXX Turner Turner syndrome variants
44
What are examples of Disorders of androgen synthesis
- Leydig Cell Aplasia or Hypoplasia - Defects in LHCG Receptor - Smith-Lemli-Opitz Syndrome - Defect of Cholesterol Biosynthesis - Lipoid Congenital Adrenal Hyperplasia - Defects of Pregnenolone Biosynthesis - P450c17 Deficiency - Defects of Androstenedione and DHEA Biosynthesis - P450 Oxidoreductase (POR) Deficiency - 3β-HSD Deficiency - Defects of Δ4-Steroid Biosynthesis - 17β-HSD Deficiency - Defect of Testosterone Biosynthesis - 5α-reductase type 2 - Defects of DHT Biosynthesis - MAMLD1 - Other Defects of Androgen Biosynthesis
45
Non-dysgenetic DSD with Ovarian Differentiation
A. Disorders of adrenal steroidogenesis 21-Hydroxylase Deficiency (21-OHD) 11β-Hydroxylase Deficiency 3β-Hydroxysteroid Dehydrogenase Deficiency B. Glucocorticoid receptor gene mutation C. Placental aromatase deficiency D. P450 oxidoreductase deficiency E. Maternal sources: Androgens and progestogens
46
when is cryptorchidism suggestive of DSD?
If bilateral and/or present with hypospadias at birth, DSD w/u suggested
47
genes related to ovotesticular DSD
SRY (80%) SOX9 SF1 WNT4
48
Activins: where are they made what do they do
made in gonads,pituitary,placenta. Stimulates FSH secretion
49
Inhibins: where are they made what do they do
made in gonads, pituitary, placenta. Inhibits FSH secretion, ? Role in spermatogenesis? inhibin B is marker of functional testicular tissue (Sertoli)
50
issue w lice tx
tea tree oil estrogen
51
effect of weed on hormones
decreased GH PRL initially elevated, then decreased decreased GnRH ie LH/FSH
52
what do Sertoli cells secrete
inhibin B and AMH
53
how to dx CAIS
androgen receptor sequencing (not just genetic panel)
54
adv/disadv of gonadectomy in CAIS
for: risk of malignant transformation in gonads, Mostly occurring post pubertally against: can benefit from endogenous testo production and peripheral conversion to estrogen and avoid exogenous steroid replacement

RC Peds Endo 2023 (17 decks)

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